SERPINI1 (serpin family I member 1) - Rat Genome Database

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Gene: SERPINI1 (serpin family I member 1) Homo sapiens
Analyze
Symbol: SERPINI1
Name: serpin family I member 1
RGD ID: 731505
HGNC Page HGNC
Description: Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity and positive regulation of neuron projection development. Located in cytoplasmic vesicle lumen; extracellular space; and neuronal cell body. Implicated in familial encephalopathy with neuroserpin inclusion bodies.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781N13156; HNS-S1; HNS-S2; neuroserpin; peptidase inhibitor 12; PI-12; PI12; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1; serpin I1; serpin peptidase inhibitor clade I member 1; serpin peptidase inhibitor, clade I (neuroserpin), member 1; truncated HNS-T
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383167,735,721 - 167,825,569 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3167,735,243 - 167,825,569 (+)EnsemblGRCh38hg38GRCh38
GRCh373167,453,509 - 167,543,357 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,936,217 - 169,026,048 (+)NCBINCBI36hg18NCBI36
Build 343168,936,224 - 169,026,056NCBI
Celera3165,851,868 - 165,941,800 (+)NCBI
Cytogenetic Map3q26.1NCBI
HuRef3164,823,494 - 164,913,496 (+)NCBIHuRef
CHM1_13167,416,304 - 167,506,237 (+)NCBICHM1_1
T2T-CHM13v2.03170,519,611 - 170,609,466 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
4-hydroxynon-2-enal  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
chlordecone  (ISO)
choline  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dicrotophos  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
haloperidol  (ISO)
imipramine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
olanzapine  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
phenethyl isothiocyanate  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP)
sarin  (EXP)
SB 431542  (EXP)
sertraline  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
succimer  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tungsten  (ISO)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9070919   PMID:9407089   PMID:9442076   PMID:10517635   PMID:10992299   PMID:11880376   PMID:12103288   PMID:12228252   PMID:12354288   PMID:12477932   PMID:14983220   PMID:15090543  
PMID:15269833   PMID:15291813   PMID:15489334   PMID:15664988   PMID:16344560   PMID:16849336   PMID:17040209   PMID:17212813   PMID:17606885   PMID:17961231   PMID:18029348   PMID:18051703  
PMID:18391951   PMID:18591508   PMID:19222708   PMID:19265707   PMID:19285087   PMID:19423540   PMID:19423713   PMID:20406964   PMID:20438785   PMID:20691191   PMID:21081089   PMID:21174006  
PMID:21487809   PMID:21507957   PMID:21569344   PMID:21653829   PMID:21873635   PMID:21961602   PMID:23376485   PMID:23533145   PMID:23534349   PMID:24036060   PMID:24172014   PMID:24795221  
PMID:25450507   PMID:25670787   PMID:26176694   PMID:26329378   PMID:26367528   PMID:26871637   PMID:26892864   PMID:27737651   PMID:28631894   PMID:29791485   PMID:30644551   PMID:31805346  
PMID:32003693   PMID:33516851   PMID:33893722   PMID:33961781  


Genomics

Comparative Map Data
SERPINI1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383167,735,721 - 167,825,569 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3167,735,243 - 167,825,569 (+)EnsemblGRCh38hg38GRCh38
GRCh373167,453,509 - 167,543,357 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,936,217 - 169,026,048 (+)NCBINCBI36hg18NCBI36
Build 343168,936,224 - 169,026,056NCBI
Celera3165,851,868 - 165,941,800 (+)NCBI
Cytogenetic Map3q26.1NCBI
HuRef3164,823,494 - 164,913,496 (+)NCBIHuRef
CHM1_13167,416,304 - 167,506,237 (+)NCBICHM1_1
T2T-CHM13v2.03170,519,611 - 170,609,466 (+)NCBI
Serpini1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39375,464,800 - 75,549,830 (+)NCBIGRCm39mm39
GRCm39 Ensembl375,464,854 - 75,550,802 (+)Ensembl
GRCm38375,557,493 - 75,642,523 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl375,557,547 - 75,643,495 (+)EnsemblGRCm38mm10GRCm38
MGSCv37375,361,455 - 75,446,445 (+)NCBIGRCm37mm9NCBIm37
MGSCv36375,643,500 - 75,728,281 (+)NCBImm8
Celera375,622,674 - 75,707,678 (+)NCBICelera
Cytogenetic Map3E3NCBI
Serpini1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22160,346,403 - 160,433,135 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2160,346,758 - 160,433,135 (+)Ensembl
Rnor_6.02174,013,058 - 174,111,693 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2174,013,288 - 174,111,752 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02193,348,764 - 193,446,692 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42166,445,765 - 166,555,032 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12166,395,870 - 166,505,138 (+)NCBI
Celera2154,541,696 - 154,627,933 (+)NCBICelera
Cytogenetic Map2q32NCBI
Serpini1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544816,947,403 - 16,984,130 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544816,947,375 - 16,982,114 (+)NCBIChiLan1.0ChiLan1.0
SERPINI1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13172,812,348 - 172,902,372 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3172,865,891 - 172,902,372 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03164,755,803 - 164,845,572 (+)NCBIMhudiblu_PPA_v0panPan3
SERPINI1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13432,553,876 - 32,624,708 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3432,553,902 - 32,624,526 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3441,634,867 - 41,710,496 (+)NCBI
ROS_Cfam_1.03432,632,851 - 32,708,874 (+)NCBI
ROS_Cfam_1.0 Ensembl3432,633,267 - 32,708,863 (+)Ensembl
UMICH_Zoey_3.13432,577,993 - 32,648,768 (+)NCBI
UNSW_CanFamBas_1.03432,538,519 - 32,614,495 (+)NCBI
UU_Cfam_GSD_1.03432,810,135 - 32,886,159 (+)NCBI
Serpini1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560298,971,772 - 99,053,590 (+)NCBI
SpeTri2.0NW_0049365934,569,183 - 4,649,901 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINI1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13106,559,735 - 106,658,119 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113106,559,326 - 106,636,930 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213115,121,198 - 115,199,343 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINI1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11521,610,545 - 21,696,611 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1521,610,791 - 21,645,701 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606330,454,469 - 30,541,000 (-)NCBIVero_WHO_p1.0
Serpini1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473045,739,911 - 45,795,570 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473045,698,714 - 45,791,744 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH118964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,516,031 - 167,516,326UniSTSGRCh37
Build 363168,998,725 - 168,999,020RGDNCBI36
Celera3165,914,454 - 165,914,749RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,886,131 - 164,886,426UniSTS
TNG Radiation Hybrid Map394103.0UniSTS
STS-N47859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,543,081 - 167,543,320UniSTSGRCh37
Build 363169,025,775 - 169,026,014RGDNCBI36
Celera3165,941,524 - 165,941,763RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,913,220 - 164,913,459UniSTS
GeneMap99-GB4 RH Map3612.12UniSTS
SGC32223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,525,973 - 167,526,072UniSTSGRCh37
Build 363169,008,667 - 169,008,766RGDNCBI36
Cytogenetic Map3q26.1UniSTS
GeneMap99-GB4 RH Map3614.44UniSTS
Whitehead-RH Map3750.1UniSTS
NCBI RH Map31459.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pOncomiRDBexternal_infoNANA22464652

Predicted Target Of
Summary Value
Count of predictions:552
Count of miRNA genes:275
Interacting mature miRNAs:295
Transcripts:ENST00000295777, ENST00000446050, ENST00000466865, ENST00000472747, ENST00000472941, ENST00000488374, ENST00000494666
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 120 883 480 37 158 36 891 29 2958 206 463 261 2 296 551 1
Low 2285 1816 1147 493 1497 335 3367 2075 768 196 977 1331 168 1 908 2158 2 1
Below cutoff 33 289 98 93 293 93 97 91 8 17 19 20 4 79 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ086144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA270615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA359846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT448707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT448708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT448709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z81326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295777   ⟹   ENSP00000295777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,735,723 - 167,825,566 (+)Ensembl
RefSeq Acc Id: ENST00000446050   ⟹   ENSP00000397373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,735,721 - 167,825,569 (+)Ensembl
RefSeq Acc Id: ENST00000466865   ⟹   ENSP00000420807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,807,238 - 167,825,560 (+)Ensembl
RefSeq Acc Id: ENST00000472747   ⟹   ENSP00000420561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,735,725 - 167,794,679 (+)Ensembl
RefSeq Acc Id: ENST00000472941   ⟹   ENSP00000420133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,735,243 - 167,790,602 (+)Ensembl
RefSeq Acc Id: ENST00000488374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,800,046 - 167,825,562 (+)Ensembl
RefSeq Acc Id: ENST00000494666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,822,936 - 167,825,560 (+)Ensembl
RefSeq Acc Id: NM_001122752   ⟹   NP_001116224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,735,721 - 167,825,569 (+)NCBI
GRCh373167,453,432 - 167,543,357 (+)ENTREZGENE
HuRef3164,823,494 - 164,913,496 (+)ENTREZGENE
CHM1_13167,416,304 - 167,506,237 (+)NCBI
T2T-CHM13v2.03170,519,611 - 170,609,466 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005025   ⟹   NP_005016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,735,721 - 167,825,569 (+)NCBI
GRCh373167,453,432 - 167,543,357 (+)ENTREZGENE
Build 363168,936,217 - 169,026,048 (+)NCBI Archive
HuRef3164,823,494 - 164,913,496 (+)ENTREZGENE
CHM1_13167,416,383 - 167,506,237 (+)NCBI
T2T-CHM13v2.03170,519,611 - 170,609,466 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006618   ⟹   XP_016862107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,735,721 - 167,825,569 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001116224   ⟸   NM_001122752
- Peptide Label: precursor
- UniProtKB: Q99574 (UniProtKB/Swiss-Prot),   A0A0S2Z455 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005016   ⟸   NM_005025
- Peptide Label: precursor
- UniProtKB: Q99574 (UniProtKB/Swiss-Prot),   A0A0S2Z455 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862107   ⟸   XM_017006618
- Peptide Label: isoform X1
- UniProtKB: Q99574 (UniProtKB/Swiss-Prot),   A0A0S2Z455 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000295777   ⟸   ENST00000295777
RefSeq Acc Id: ENSP00000420807   ⟸   ENST00000466865
RefSeq Acc Id: ENSP00000397373   ⟸   ENST00000446050
RefSeq Acc Id: ENSP00000420133   ⟸   ENST00000472941
RefSeq Acc Id: ENSP00000420561   ⟸   ENST00000472747
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99574-F1-model_v2 AlphaFold Q99574 1-410 view protein structure

Promoters
RGD ID:6866214
Promoter ID:EPDNEW_H6272
Type:initiation region
Name:SERPINI1_2
Description:serpin family I member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6273  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,735,205 - 167,735,265EPDNEW
RGD ID:6866216
Promoter ID:EPDNEW_H6273
Type:initiation region
Name:SERPINI1_1
Description:serpin family I member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,735,723 - 167,735,783EPDNEW
RGD ID:6801660
Promoter ID:HG_KWN:46641
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562
Transcripts:NM_001122752,   NM_005025
Position:
Human AssemblyChrPosition (strand)Source
Build 363168,935,346 - 168,936,207 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000525804] Chr3:167794703 [GRCh38]
Chr3:167512491 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000546410] Chr3:167789294 [GRCh38]
Chr3:167507082 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000007502] Chr3:167789273 [GRCh38]
Chr3:167507061 [GRCh37]
Chr3:3q26.1
pathogenic
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000007503] Chr3:167789282 [GRCh38]
Chr3:167507070 [GRCh37]
Chr3:3q26.1
pathogenic
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000007504] Chr3:167823019 [GRCh38]
Chr3:167540807 [GRCh37]
Chr3:3q26.1
pathogenic
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) single nucleotide variant Abnormality of the nervous system [RCV001813962]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000007505] Chr3:167825265 [GRCh38]
Chr3:167543053 [GRCh37]
Chr3:3q26.1
pathogenic|likely pathogenic
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000007506] Chr3:167825264 [GRCh38]
Chr3:167543052 [GRCh37]
Chr3:3q26.1
pathogenic
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000549106] Chr3:167790461 [GRCh38]
Chr3:167508249 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001302643] Chr3:167789237 [GRCh38]
Chr3:167507025 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000550303] Chr3:167790594 [GRCh38]
Chr3:167508382 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q26.1-26.2(chr3:166681145-168482463)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|See cases [RCV000051561] Chr3:166681145..168482463 [GRCh38]
Chr3:166398933..168200251 [GRCh37]
Chr3:167881627..169682945 [NCBI36]
Chr3:3q26.1-26.2
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001253179] Chr3:167792694 [GRCh38]
Chr3:167510482 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 copy number gain See cases [RCV000136642] Chr3:166831737..170631211 [GRCh38]
Chr3:166549525..170349000 [GRCh37]
Chr3:168032219..171831694 [NCBI36]
Chr3:3q26.1-26.2
uncertain significance
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000524880] Chr3:167792590 [GRCh38]
Chr3:167510378 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000322804]|not provided [RCV000224023] Chr3:167789205 [GRCh38]
Chr3:167506993 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000286297]|not provided [RCV001691980]|not specified [RCV001579670] Chr3:167789179 [GRCh38]
Chr3:167506967 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000279563]|not provided [RCV000440327] Chr3:167790410 [GRCh38]
Chr3:167508198 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000282982] Chr3:167789289 [GRCh38]
Chr3:167507077 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.881+10T>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000552771] Chr3:167794834 [GRCh38]
Chr3:167512622 [GRCh37]
Chr3:3q26.1
benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001445287]|not provided [RCV000550076] Chr3:167794627 [GRCh38]
Chr3:167512415 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000269095] Chr3:167825273 [GRCh38]
Chr3:167543061 [GRCh37]
Chr3:3q26.1
benign|likely benign
NM_001122752.2(SERPINI1):c.432T>C (p.Asn144=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000315121]|not provided [RCV001579788] Chr3:167790553 [GRCh38]
Chr3:167508341 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000334633] Chr3:167790525 [GRCh38]
Chr3:167508313 [GRCh37]
Chr3:3q26.1
benign|likely benign
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000377466]|not provided [RCV001579565] Chr3:167789234 [GRCh38]
Chr3:167507022 [GRCh37]
Chr3:3q26.1
benign|likely benign
NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000337987] Chr3:167789346 [GRCh38]
Chr3:167507134 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000380725]|not specified [RCV000518477] Chr3:167789168 [GRCh38]
Chr3:167506956 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.*197T>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000360309] Chr3:167825520 [GRCh38]
Chr3:167543308 [GRCh37]
Chr3:3q26.1
likely benign|uncertain significance
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000405141] Chr3:167790402 [GRCh38]
Chr3:167508190 [GRCh37]
Chr3:3q26.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000326135]|not provided [RCV001691979]|not specified [RCV001580080] Chr3:167789149 [GRCh38]
Chr3:167506937 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.838G>A (p.Ala280Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000309204]|not provided [RCV000992922]|not specified [RCV001579339] Chr3:167794781 [GRCh38]
Chr3:167512569 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.518A>G (p.Asp173Gly) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000367431]|not provided [RCV000514114] Chr3:167792626 [GRCh38]
Chr3:167510414 [GRCh37]
Chr3:3q26.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001122752.2(SERPINI1):c.576G>A (p.Ser192=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000395296]|not provided [RCV001618611]|not specified [RCV001579708] Chr3:167792684 [GRCh38]
Chr3:167510472 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.-23G>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000276613] Chr3:167735819 [GRCh38]
Chr3:167453607 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.-19+48C>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000331710] Chr3:167735871 [GRCh38]
Chr3:167453659 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.959C>G (p.Ala320Gly) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000366113] Chr3:167807321 [GRCh38]
Chr3:167525109 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.410A>G (p.Asn137Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000403236] Chr3:167790531 [GRCh38]
Chr3:167508319 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_005025.4(SERPINI1):c.*256dupT duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV000368652] Chr3:167825578..167825579 [GRCh38]
Chr3:167543367 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.-84GGAGC[3] microsatellite Familial encephalopathy with neuroserpin inclusion bodies [RCV000371190] Chr3:167735753..167735754 [GRCh38]
Chr3:167453541..167453542 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.-19+92G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV000406577]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000386276] Chr3:167735915 [GRCh38]
Chr3:167453703 [GRCh37]
Chr3:3q26.1
benign|likely benign
NM_001122752.2(SERPINI1):c.-19+117A>G single nucleotide variant Cerebral cavernous malformation [RCV000311644]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000271105] Chr3:167735940 [GRCh38]
Chr3:167453728 [GRCh37]
Chr3:3q26.1
likely benign
NM_007217.4(PDCD10):c.-438G>C single nucleotide variant Cerebral cavernous malformation [RCV000280104]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000337520] Chr3:167734846 [GRCh38]
Chr3:167452634 [GRCh37]
Chr3:3q26.1
benign|likely benign|uncertain significance
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000531160] Chr3:167789345 [GRCh38]
Chr3:167507133 [GRCh37]
Chr3:3q26.1
likely benign|uncertain significance
NM_001122752.2(SERPINI1):c.*172T>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000326610] Chr3:167825495 [GRCh38]
Chr3:167543283 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000553109] Chr3:167789234 [GRCh38]
Chr3:167507022 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000697834] Chr3:167823045 [GRCh38]
Chr3:167540833 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)x3 copy number gain See cases [RCV000448072] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2
uncertain significance
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642684] Chr3:167807276 [GRCh38]
Chr3:167525064 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000540311] Chr3:167794786 [GRCh38]
Chr3:167512574 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000536912] Chr3:167790418 [GRCh38]
Chr3:167508206 [GRCh37]
Chr3:3q26.1
benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642683] Chr3:167789376 [GRCh38]
Chr3:167507164 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000555514] Chr3:167794760 [GRCh38]
Chr3:167512548 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000533625] Chr3:167822996 [GRCh38]
Chr3:167540784 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642686] Chr3:167792681 [GRCh38]
Chr3:167510469 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642682] Chr3:167825311 [GRCh38]
Chr3:167543099 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000558814] Chr3:167789336 [GRCh38]
Chr3:167507124 [GRCh37]
Chr3:3q26.1
benign|likely benign
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642685] Chr3:167794694 [GRCh38]
Chr3:167512482 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000642681] Chr3:167790407 [GRCh38]
Chr3:167508195 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000824175]|not provided [RCV000713180] Chr3:167824545 [GRCh38]
Chr3:167542333 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000697708] Chr3:167790560 [GRCh38]
Chr3:167508348 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000687197] Chr3:167825276 [GRCh38]
Chr3:167543064 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000705876] Chr3:167792634 [GRCh38]
Chr3:167510422 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000689787] Chr3:167824523 [GRCh38]
Chr3:167542311 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000691347] Chr3:167792616 [GRCh38]
Chr3:167510404 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000700252] Chr3:167794797 [GRCh38]
Chr3:167512585 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001122752.2(SERPINI1):c.251-8T>C single nucleotide variant not provided [RCV000980420] Chr3:167790364 [GRCh38]
Chr3:167508152 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.251-139A>G single nucleotide variant not provided [RCV001645370] Chr3:167790233 [GRCh38]
Chr3:167508021 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.1067-6C>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001146819] Chr3:167824467 [GRCh38]
Chr3:167542255 [GRCh37]
Chr3:3q26.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001042016] Chr3:167794713 [GRCh38]
Chr3:167512501 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001042566] Chr3:167790453 [GRCh38]
Chr3:167508241 [GRCh37]
Chr3:3q26.1
uncertain significance
NC_000003.12:g.(?_167684288)_(167825343_?)dup duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001033883] Chr3:167402076..167543131 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000816179] Chr3:167790509 [GRCh38]
Chr3:167508297 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001484199]|not provided [RCV000945873] Chr3:167794660 [GRCh38]
Chr3:167512448 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000976795] Chr3:167792660 [GRCh38]
Chr3:167510448 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001413166]|not provided [RCV000978026] Chr3:167790562 [GRCh38]
Chr3:167508350 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001461355]|not provided [RCV000975708] Chr3:167825266 [GRCh38]
Chr3:167543054 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000793055] Chr3:167825263 [GRCh38]
Chr3:167543051 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000803017] Chr3:167789328 [GRCh38]
Chr3:167507116 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000804591] Chr3:167789181 [GRCh38]
Chr3:167506969 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1(chr3:167474386-167519080)x3 copy number gain not provided [RCV000848945] Chr3:167474386..167519080 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.881+4T>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000814090] Chr3:167794828 [GRCh38]
Chr3:167512616 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.-19+6C>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001146714] Chr3:167735829 [GRCh38]
Chr3:167453617 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.250+13A>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001150946] Chr3:167789391 [GRCh38]
Chr3:167507179 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV000793394] Chr3:167789349 [GRCh38]
Chr3:167507137 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001150945] Chr3:167789223 [GRCh38]
Chr3:167507011 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1 copy number loss not provided [RCV000847552] Chr3:165603872..168796960 [GRCh37]
Chr3:3q26.1-26.2
pathogenic
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001246094] Chr3:167794646 [GRCh38]
Chr3:167512434 [GRCh37]
Chr3:3q26.1
uncertain significance
NC_000003.12:g.(?_167684288)_(167825343_?)del deletion Cerebral cavernous malformation 3 [RCV001032279] Chr3:167402076..167543131 [GRCh37]
Chr3:3q26.1
pathogenic
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001217387] Chr3:167790437 [GRCh38]
Chr3:167508225 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001234665] Chr3:167792674 [GRCh38]
Chr3:167510462 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001224655] Chr3:167823039 [GRCh38]
Chr3:167540827 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001223652] Chr3:167825312 [GRCh38]
Chr3:167543100 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001240315] Chr3:167789331 [GRCh38]
Chr3:167507119 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001223313] Chr3:167825252 [GRCh38]
Chr3:167543040 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001224483]|not provided [RCV001579795] Chr3:167789204 [GRCh38]
Chr3:167506992 [GRCh37]
Chr3:3q26.1
likely benign|uncertain significance
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001226275] Chr3:167794805 [GRCh38]
Chr3:167512593 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.-19+22G>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001146715] Chr3:167735845 [GRCh38]
Chr3:167453633 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.482-186GT[9] microsatellite not provided [RCV001721623] Chr3:167792403..167792404 [GRCh38]
Chr3:167510191..167510192 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.1156+130A>G single nucleotide variant not provided [RCV001639500] Chr3:167824692 [GRCh38]
Chr3:167542480 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.414T>C (p.His138=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001079632]|not provided [RCV000930323] Chr3:167790535 [GRCh38]
Chr3:167508323 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=) single nucleotide variant not provided [RCV000919232] Chr3:167789176 [GRCh38]
Chr3:167506964 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs) duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001227722] Chr3:167789188..167789189 [GRCh38]
Chr3:167506976..167506977 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001043516] Chr3:167790577 [GRCh38]
Chr3:167508365 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001224871] Chr3:167789303 [GRCh38]
Chr3:167507091 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.251-198T>A single nucleotide variant not provided [RCV001714011] Chr3:167790174 [GRCh38]
Chr3:167507962 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.482-176A>G single nucleotide variant not provided [RCV001676720] Chr3:167792414 [GRCh38]
Chr3:167510202 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.251-98T>C single nucleotide variant not provided [RCV001614706] Chr3:167790274 [GRCh38]
Chr3:167508062 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.482-164A>G single nucleotide variant not provided [RCV001638294] Chr3:167792426 [GRCh38]
Chr3:167510214 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001050659] Chr3:167789183 [GRCh38]
Chr3:167506971 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1066+78T>C single nucleotide variant not provided [RCV001645845] Chr3:167823150 [GRCh38]
Chr3:167540938 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.881+131_881+145dup duplication not provided [RCV001651408] Chr3:167794950..167794951 [GRCh38]
Chr3:167512738..167512739 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001048000] Chr3:167807279 [GRCh38]
Chr3:167525067 [GRCh37]
Chr3:3q26.1
uncertain significance
NC_000003.12:g.(?_167822966)_(167825343_?)del deletion Familial encephalopathy with neuroserpin inclusion bodies [RCV001033645] Chr3:167540754..167543131 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.482-201AT[5] microsatellite not provided [RCV001651743] Chr3:167792389..167792390 [GRCh38]
Chr3:167510177..167510178 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.524C>T (p.Ala175Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001144850] Chr3:167792632 [GRCh38]
Chr3:167510420 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001046357] Chr3:167807276 [GRCh38]
Chr3:167525064 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.*87A>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001146820] Chr3:167825410 [GRCh38]
Chr3:167543198 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.250+5G>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001039437] Chr3:167789383 [GRCh38]
Chr3:167507171 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001298379] Chr3:167794721 [GRCh38]
Chr3:167512509 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001339192] Chr3:167792782 [GRCh38]
Chr3:167510570 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001301595] Chr3:167807327 [GRCh38]
Chr3:167525115 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001304076] Chr3:167790423 [GRCh38]
Chr3:167508211 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001352170] Chr3:167789235 [GRCh38]
Chr3:167507023 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001342493] Chr3:167807325 [GRCh38]
Chr3:167525113 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001326471] Chr3:167792737 [GRCh38]
Chr3:167510525 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001415445] Chr3:167790559 [GRCh38]
Chr3:167508347 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001369209] Chr3:167789272 [GRCh38]
Chr3:167507060 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001370572] Chr3:167789345 [GRCh38]
Chr3:167507133 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001304376] Chr3:167807285 [GRCh38]
Chr3:167525073 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001397279] Chr3:167792693 [GRCh38]
Chr3:167510481 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001321577] Chr3:167794784 [GRCh38]
Chr3:167512572 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001346535] Chr3:167825274 [GRCh38]
Chr3:167543062 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001365009] Chr3:167825263 [GRCh38]
Chr3:167543051 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001323416] Chr3:167789348 [GRCh38]
Chr3:167507136 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001323417] Chr3:167794739 [GRCh38]
Chr3:167512527 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001323579] Chr3:167792683 [GRCh38]
Chr3:167510471 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001321207] Chr3:167792601 [GRCh38]
Chr3:167510389 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001339551] Chr3:167790461 [GRCh38]
Chr3:167508249 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001343285] Chr3:167790471 [GRCh38]
Chr3:167508259 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001325506] Chr3:167790583 [GRCh38]
Chr3:167508371 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001360349] Chr3:167789138 [GRCh38]
Chr3:167506926 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001319173] Chr3:167807260 [GRCh38]
Chr3:167525048 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001312698] Chr3:167790432 [GRCh38]
Chr3:167508220 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.482-6A>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001454650] Chr3:167792584 [GRCh38]
Chr3:167510372 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001475287] Chr3:167789326 [GRCh38]
Chr3:167507114 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001478805] Chr3:167792604 [GRCh38]
Chr3:167510392 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001473697] Chr3:167790463 [GRCh38]
Chr3:167508251 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1067-4G>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001436634] Chr3:167824469 [GRCh38]
Chr3:167542257 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001474419] Chr3:167794819 [GRCh38]
Chr3:167512607 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001403589] Chr3:167794624 [GRCh38]
Chr3:167512412 [GRCh37]
Chr3:3q26.1
likely benign
NC_000003.11:g.167453039T>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001518452] Chr3:167735251 [GRCh38]
Chr3:167453039 [GRCh37]
Chr3:3q26.1
benign
NC_000003.11:g.167452991T>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001518451] Chr3:167735203 [GRCh38]
Chr3:167452991 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001405245] Chr3:167824531 [GRCh38]
Chr3:167542319 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001417777] Chr3:167789212 [GRCh38]
Chr3:167507000 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.251-7C>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001408504] Chr3:167790365 [GRCh38]
Chr3:167508153 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001427608] Chr3:167790523 [GRCh38]
Chr3:167508311 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1067-192G>A single nucleotide variant not provided [RCV001687152] Chr3:167824281 [GRCh38]
Chr3:167542069 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.251-10C>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001520843] Chr3:167790362 [GRCh38]
Chr3:167508150 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.251-122G>C single nucleotide variant not provided [RCV001694914] Chr3:167790250 [GRCh38]
Chr3:167508038 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001460561] Chr3:167792690 [GRCh38]
Chr3:167510478 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001478243] Chr3:167824522 [GRCh38]
Chr3:167542310 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001419523] Chr3:167790427 [GRCh38]
Chr3:167508215 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001460047] Chr3:167794681 [GRCh38]
Chr3:167512469 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1066+10G>T single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001464523] Chr3:167823082 [GRCh38]
Chr3:167540870 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001505141] Chr3:167823032 [GRCh38]
Chr3:167540820 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1157-4A>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001498991] Chr3:167825243 [GRCh38]
Chr3:167543031 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.482-7del deletion Familial encephalopathy with neuroserpin inclusion bodies [RCV001443977] Chr3:167792583 [GRCh38]
Chr3:167510371 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001479311] Chr3:167789320 [GRCh38]
Chr3:167507108 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001497327] Chr3:167790418 [GRCh38]
Chr3:167508206 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001484198] Chr3:167807334 [GRCh38]
Chr3:167525122 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001929145] Chr3:167789175 [GRCh38]
Chr3:167506963 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002008306] Chr3:167825315 [GRCh38]
Chr3:167543103 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001874867] Chr3:167789261 [GRCh38]
Chr3:167507049 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001893327] Chr3:167794761 [GRCh38]
Chr3:167512549 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.677-20G>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001986573] Chr3:167794600 [GRCh38]
Chr3:167512388 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q26.1(chr3:167247577-167470158)x3 copy number gain not provided [RCV001827692] Chr3:167247577..167470158 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002023425] Chr3:167789189 [GRCh38]
Chr3:167506977 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001948969] Chr3:167789132 [GRCh38]
Chr3:167506920 [GRCh37]
Chr3:3q26.1
uncertain significance
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596) copy number gain not specified [RCV002053385] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2
uncertain significance
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002023614] Chr3:167824477 [GRCh38]
Chr3:167542265 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001966110] Chr3:167790438 [GRCh38]
Chr3:167508226 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002023308] Chr3:167807254 [GRCh38]
Chr3:167525042 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001997646] Chr3:167794730 [GRCh38]
Chr3:167512518 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001884756] Chr3:167790457 [GRCh38]
Chr3:167508245 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001887439] Chr3:167824477 [GRCh38]
Chr3:167542265 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.481+4T>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001972227] Chr3:167790606 [GRCh38]
Chr3:167508394 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.482-5A>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002031835] Chr3:167792585 [GRCh38]
Chr3:167510373 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001887545] Chr3:167794797 [GRCh38]
Chr3:167512585 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001979196] Chr3:167792704 [GRCh38]
Chr3:167510492 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002010495] Chr3:167823012 [GRCh38]
Chr3:167540800 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001923181] Chr3:167825291 [GRCh38]
Chr3:167543079 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu) indel Familial encephalopathy with neuroserpin inclusion bodies [RCV001935261] Chr3:167807338..167807339 [GRCh38]
Chr3:167525126..167525127 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001918249] Chr3:167790570 [GRCh38]
Chr3:167508358 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002026150] Chr3:167789171 [GRCh38]
Chr3:167506959 [GRCh37]
Chr3:3q26.1
uncertain significance
NC_000003.11:g.(?_167402096)_(167543111_?)dup duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001931720] Chr3:167402096..167543111 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002013740] Chr3:167794772 [GRCh38]
Chr3:167512560 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001881954] Chr3:167789148 [GRCh38]
Chr3:167506936 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001937814] Chr3:167807266 [GRCh38]
Chr3:167525054 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001884402] Chr3:167789265 [GRCh38]
Chr3:167507053 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001995711] Chr3:167792629 [GRCh38]
Chr3:167510417 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001996543] Chr3:167825292 [GRCh38]
Chr3:167543080 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001994091] Chr3:167789159 [GRCh38]
Chr3:167506947 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001995096] Chr3:167789368 [GRCh38]
Chr3:167507156 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001980355] Chr3:167789280 [GRCh38]
Chr3:167507068 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?) duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001934560] Chr3:167825318..167825319 [GRCh38]
Chr3:167543106..167543107 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001991545] Chr3:167789243 [GRCh38]
Chr3:167507031 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001998421] Chr3:167792710 [GRCh38]
Chr3:167510498 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002010771] Chr3:167794637 [GRCh38]
Chr3:167512425 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001976042] Chr3:167790588 [GRCh38]
Chr3:167508376 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV001957350] Chr3:167794674 [GRCh38]
Chr3:167512462 [GRCh37]
Chr3:3q26.1
uncertain significance
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002085072] Chr3:167794690 [GRCh38]
Chr3:167512478 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002088890] Chr3:167807337 [GRCh38]
Chr3:167525125 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002147895] Chr3:167789218 [GRCh38]
Chr3:167507006 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.250+9G>A single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002185419] Chr3:167789387 [GRCh38]
Chr3:167507175 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.251-18T>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002108870] Chr3:167790354 [GRCh38]
Chr3:167508142 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002174404] Chr3:167807319 [GRCh38]
Chr3:167525107 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002107935] Chr3:167823014 [GRCh38]
Chr3:167540802 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.980-7T>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002092265] Chr3:167822979 [GRCh38]
Chr3:167540767 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002213554] Chr3:167790493 [GRCh38]
Chr3:167508281 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.482-20A>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002156552] Chr3:167792570 [GRCh38]
Chr3:167510358 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.250+14G>C single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002179487] Chr3:167789392 [GRCh38]
Chr3:167507180 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.482-10dup duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV002177861] Chr3:167792574..167792575 [GRCh38]
Chr3:167510362..167510363 [GRCh37]
Chr3:3q26.1
benign
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002143326] Chr3:167823041 [GRCh38]
Chr3:167540829 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002217989] Chr3:167789275 [GRCh38]
Chr3:167507063 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002119889] Chr3:167825311 [GRCh38]
Chr3:167543099 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.881+13T>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002158254] Chr3:167794837 [GRCh38]
Chr3:167512625 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.881+15T>G single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002198387] Chr3:167794839 [GRCh38]
Chr3:167512627 [GRCh37]
Chr3:3q26.1
likely benign
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=) single nucleotide variant Familial encephalopathy with neuroserpin inclusion bodies [RCV002184778] Chr3:167789146 [GRCh38]
Chr3:167506934 [GRCh37]
Chr3:3q26.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8943 AgrOrtholog
COSMIC SERPINI1 COSMIC
Ensembl Genes ENSG00000163536 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000295777 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420133 UniProtKB/TrEMBL
  ENSP00000420561 UniProtKB/TrEMBL
  ENSP00000420807 UniProtKB/TrEMBL
Ensembl Transcript ENST00000295777 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000446050 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466865 UniProtKB/TrEMBL
  ENST00000472747 UniProtKB/TrEMBL
  ENST00000472941 UniProtKB/TrEMBL
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163536 GTEx
HGNC ID HGNC:8943 ENTREZGENE
Human Proteome Map SERPINI1 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5274 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5274 ENTREZGENE
OMIM 602445 OMIM
  604218 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35511 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z455 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z463_HUMAN UniProtKB/TrEMBL
  C9JDY5_HUMAN UniProtKB/TrEMBL
  C9JQU8_HUMAN UniProtKB/TrEMBL
  H7C5T9_HUMAN UniProtKB/TrEMBL
  NEUS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K217 UniProtKB/Swiss-Prot
  D3DNP1 UniProtKB/Swiss-Prot
  Q6AHZ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINI1  serpin family I member 1  SERPINI1  serpin peptidase inhibitor, clade I (neuroserpin), member 1  Symbol and/or name change 5135510 APPROVED