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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | colon carcinoma | | IAGP | RGD:10056649 | 8554872 | ClinVar Annotator: match by term: Colonic carcinoma | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | colon carcinoma | | IAGP | RGD:10056649 | 8554872 | ClinVar Annotator: match by term: Colonic carcinoma | ClinVar | | |
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FLT1 (Homo sapiens - human) |
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Flt1 (Mus musculus - house mouse) |
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Flt1 (Rattus norvegicus - Norway rat) |
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Flt1 (Chinchilla lanigera - long-tailed chinchilla) |
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FLT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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FLT1 (Canis lupus familiaris - dog) |
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Flt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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FLT1 (Sus scrofa - pig) |
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FLT1 (Chlorocebus sabaeus - African green monkey) |
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Flt1 (Heterocephalus glaber - naked mole-rat) |
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D13S1250 |
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RH44391 |
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RH47290 |
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RH70263 |
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RH104153 |
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RH104465 |
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RH119940 |
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RH122752 |
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G60554 |
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RH118501 |
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D13S992 |
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D13S666E |
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GDB:180246 |
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GDB:190836 |
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GDB:218013 |
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Flt1 |
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FLT1_2504 |
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A006V36 |
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D13S1520 |
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D13S1539 |
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D13S1715 |
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RH17924 |
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D13S1448 |
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D13S1819 |
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A006Q11 |
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RH48311 |
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RH65559 |
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FLT1-112 |
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WI-7567 |
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Flt1 |
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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. |
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 | |
High | |||||||||||||||||
Medium | 715 | 1073 | 899 | 88 | 295 | 72 | 1887 | 824 | 1712 | 242 | 578 | 1295 | 17 | 1178 | 952 | 2 | |
Low | 1611 | 1390 | 768 | 487 | 1028 | 341 | 2432 | 1330 | 1939 | 132 | 786 | 136 | 148 | 1 | 26 | 1825 | 2 |
Below cutoff | 49 | 520 | 40 | 37 | 597 | 39 | 27 | 29 | 39 | 20 | 55 | 106 | 6 | 11 | 1 |
RefSeq Transcripts | NG_012003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001159920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001160030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001160031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_002019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011535014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017020485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF063657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL138712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC039007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE180461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU151621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX504049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA396081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ871317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS172284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D00133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA844548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA851664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ836394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ836395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ836396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF484674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF491868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF491869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF491870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU332841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU360600 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU368830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU443152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU826561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU826562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HD077716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF509744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JF509745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JX512442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF002712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF002713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF206396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF206397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF206398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF206399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF680663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF854284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF854285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF897924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF897925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S77812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S77814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U01134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000282397 ⟹ ENSP00000282397 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000539099 ⟹ ENSP00000442630 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000540678 ⟹ ENSP00000443311 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000541932 ⟹ ENSP00000437631 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000543394 ⟹ ENSP00000437841 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000615611 ⟹ ENSP00000484385 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000615840 ⟹ ENSP00000484039 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000617835 ⟹ ENSP00000484832 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639477 ⟹ ENSP00000491097 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001159920 ⟹ NP_001153392 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001160030 ⟹ NP_001153502 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001160031 ⟹ NP_001153503 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_002019 ⟹ NP_002010 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011535014 ⟹ XP_011533316 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017020485 ⟹ XP_016875974 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_001153392 | (Get FASTA) | NCBI Sequence Viewer |
NP_001153502 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001153503 | (Get FASTA) | NCBI Sequence Viewer | |
NP_002010 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011533316 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016875974 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAB34001 | (Get FASTA) | NCBI Sequence Viewer |
AAB34002 | (Get FASTA) | NCBI Sequence Viewer | |
AAC16449 | (Get FASTA) | NCBI Sequence Viewer | |
AAC50060 | (Get FASTA) | NCBI Sequence Viewer | |
AAH39007 | (Get FASTA) | NCBI Sequence Viewer | |
ABI53803 | (Get FASTA) | NCBI Sequence Viewer | |
ABI53804 | (Get FASTA) | NCBI Sequence Viewer | |
ABI53805 | (Get FASTA) | NCBI Sequence Viewer | |
ABS32268 | (Get FASTA) | NCBI Sequence Viewer | |
ABS32269 | (Get FASTA) | NCBI Sequence Viewer | |
ABS32270 | (Get FASTA) | NCBI Sequence Viewer | |
ABY87530 | (Get FASTA) | NCBI Sequence Viewer | |
ACA21474 | (Get FASTA) | NCBI Sequence Viewer | |
ACA62948 | (Get FASTA) | NCBI Sequence Viewer | |
ACB05747 | (Get FASTA) | NCBI Sequence Viewer | |
ACF47597 | (Get FASTA) | NCBI Sequence Viewer | |
ACF47598 | (Get FASTA) | NCBI Sequence Viewer | |
AFC77954 | (Get FASTA) | NCBI Sequence Viewer | |
AFC77955 | (Get FASTA) | NCBI Sequence Viewer | |
AGC09589 | (Get FASTA) | NCBI Sequence Viewer | |
AGL73885 | (Get FASTA) | NCBI Sequence Viewer | |
AGL73886 | (Get FASTA) | NCBI Sequence Viewer | |
AGS56393 | (Get FASTA) | NCBI Sequence Viewer | |
AGS56394 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08482 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08483 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08484 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08485 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08486 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08487 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08488 | (Get FASTA) | NCBI Sequence Viewer | |
AHC08489 | (Get FASTA) | NCBI Sequence Viewer | |
AHO49114 | (Get FASTA) | NCBI Sequence Viewer | |
AHO49115 | (Get FASTA) | NCBI Sequence Viewer | |
AHO49116 | (Get FASTA) | NCBI Sequence Viewer | |
AHO49117 | (Get FASTA) | NCBI Sequence Viewer | |
BAA00080 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92287 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85625 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62125 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56859 | (Get FASTA) | NCBI Sequence Viewer | |
CAJ33638 | (Get FASTA) | NCBI Sequence Viewer | |
CBW44131 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08431 | (Get FASTA) | NCBI Sequence Viewer | |
EAX08432 | (Get FASTA) | NCBI Sequence Viewer | |
P17948 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002010 ⟸ NM_002019 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | P17948 (UniProtKB/Swiss-Prot), L7RSL3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001153502 ⟸ NM_001160030 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | P17948 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001153392 ⟸ NM_001159920 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | P17948 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001153503 ⟸ NM_001160031 |
- Peptide Label: | isoform 4 precursor |
- UniProtKB: | P17948 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011533316 ⟸ XM_011535014 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_016875974 ⟸ XM_017020485 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000437631 ⟸ ENST00000541932 |
RefSeq Acc Id: | ENSP00000437841 ⟸ ENST00000543394 |
RefSeq Acc Id: | ENSP00000282397 ⟸ ENST00000282397 |
RefSeq Acc Id: | ENSP00000491097 ⟸ ENST00000639477 |
RefSeq Acc Id: | ENSP00000484039 ⟸ ENST00000615840 |
RefSeq Acc Id: | ENSP00000484385 ⟸ ENST00000615611 |
RefSeq Acc Id: | ENSP00000442630 ⟸ ENST00000539099 |
RefSeq Acc Id: | ENSP00000484832 ⟸ ENST00000617835 |
RefSeq Acc Id: | ENSP00000443311 ⟸ ENST00000540678 |
RGD ID: | 6790729 | ||||||||
Promoter ID: | HG_KWN:17404 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Jurkat, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001159920, NM_001160030, NM_001160031, NM_002019, UC001USD.2, UC001USE.2 | ||||||||
Position: |
|
RGD ID: | 7226117 | ||||||||
Promoter ID: | EPDNEW_H18804 | ||||||||
Type: | initiation region | ||||||||
Name: | FLT1_2 | ||||||||
Description: | fms related tyrosine kinase 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18805 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7226119 | ||||||||
Promoter ID: | EPDNEW_H18805 | ||||||||
Type: | initiation region | ||||||||
Name: | FLT1_1 | ||||||||
Description: | fms related tyrosine kinase 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H18804 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002019.4(FLT1):c.2116+5070C>A | single nucleotide variant | Lung cancer [RCV000097817] | Chr13:28379815 [GRCh38] Chr13:28953952 [GRCh37] Chr13:13q12.3 |
uncertain significance |
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 | copy number gain | See cases [RCV000053729] | Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 | copy number gain | See cases [RCV000053721] | Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_002019.4(FLT1):c.2827G>A (p.Glu943Lys) | single nucleotide variant | Malignant melanoma [RCV000062656] | Chr13:28322916 [GRCh38] Chr13:28897053 [GRCh37] Chr13:27795053 [NCBI36] Chr13:13q12.3 |
not provided |
NM_001159920.1(FLT1):c.1634G>A (p.Gly545Glu) | single nucleotide variant | Malignant melanoma [RCV000062657] | Chr13:28396986 [GRCh38] Chr13:28971123 [GRCh37] Chr13:27869123 [NCBI36] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.3287-16A>C | single nucleotide variant | Carcinoma of colon [RCV000149489] | Chr13:28317613 [GRCh38] Chr13:28891750 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=) | single nucleotide variant | Carcinoma of colon [RCV000149490] | Chr13:28319505 [GRCh38] Chr13:28893642 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.3175-69A>T | single nucleotide variant | Carcinoma of colon [RCV000149491] | Chr13:28319603 [GRCh38] Chr13:28893740 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs) | insertion | Carcinoma of colon [RCV000149492] | Chr13:28322270..28322271 [GRCh38] Chr13:28896407..28896408 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2708-29A>C | single nucleotide variant | Carcinoma of colon [RCV000149493] | Chr13:28327579 [GRCh38] Chr13:28901716 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2708-39G>C | single nucleotide variant | Carcinoma of colon [RCV000149494] | Chr13:28327589 [GRCh38] Chr13:28901726 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs) | insertion | Carcinoma of colon [RCV000149495] | Chr13:28329667..28329668 [GRCh38] Chr13:28903804..28903805 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2901G>A (p.Ala967=) | single nucleotide variant | Carcinoma of colon [RCV000149496] | Chr13:28322842 [GRCh38] Chr13:28896979 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2871A>T (p.Leu957=) | single nucleotide variant | Carcinoma of colon [RCV000149497] | Chr13:28322872 [GRCh38] Chr13:28897009 [GRCh37] Chr13:13q12.3 |
not provided |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3 | copy number gain | See cases [RCV000135283] | Chr13:26965244..30097858 [GRCh38] Chr13:27539381..30671995 [GRCh37] Chr13:26437381..29569995 [NCBI36] Chr13:13q12.13-12.3 |
likely pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 | copy number gain | See cases [RCV000137892] | Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 | copy number gain | See cases [RCV000141867] | Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser) | single nucleotide variant | Carcinoma of colon [RCV000162254] | Chr13:28317555 [GRCh38] Chr13:28891692 [GRCh37] Chr13:13q12.3 |
not provided |
NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) | deletion | Carcinoma of colon [RCV000186550] | Chr13:28339190..28339217 [GRCh38] Chr13:28913327..28913354 [GRCh37] Chr13:13q12.3 |
uncertain significance |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 | copy number loss | PARP Inhibitor response [RCV000626443] | Chr13:24080918..34361992 [GRCh37] Chr13:13q12.12-13.2 |
drug response |
GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3 | copy number gain | See cases [RCV000512521] | Chr13:28152002..29117192 [GRCh37] Chr13:13q12.2-12.3 |
uncertain significance |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 | copy number gain | not provided [RCV000683572] | Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.3(chr13:28988795-29451698)x3 | copy number gain | not provided [RCV000738147] | Chr13:28988795..29451698 [GRCh37] Chr13:13q12.3 |
benign |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_002019.4(FLT1):c.321C>T (p.Cys107=) | single nucleotide variant | not provided [RCV000901557] | Chr13:28466970 [GRCh38] Chr13:29041107 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.2382C>T (p.Tyr794=) | single nucleotide variant | not provided [RCV000880653] | Chr13:28339274 [GRCh38] Chr13:28913411 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.1474C>T (p.Leu492=) | single nucleotide variant | not provided [RCV000881711] | Chr13:28405857 [GRCh38] Chr13:28979994 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.3175-10C>T | single nucleotide variant | not provided [RCV000906404] | Chr13:28319544 [GRCh38] Chr13:28893681 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.1095G>A (p.Pro365=) | single nucleotide variant | not provided [RCV000905305] | Chr13:28430061 [GRCh38] Chr13:29004198 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.2061C>T (p.Val687=) | single nucleotide variant | not provided [RCV000947518] | Chr13:28384940 [GRCh38] Chr13:28959077 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.16G>A (p.Asp6Asn) | single nucleotide variant | not provided [RCV000901419] | Chr13:28494828 [GRCh38] Chr13:29068965 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.1284C>A (p.Pro428=) | single nucleotide variant | not provided [RCV000943502] | Chr13:28427311 [GRCh38] Chr13:29001448 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.3969G>A (p.Pro1323=) | single nucleotide variant | not provided [RCV000885484] | Chr13:28303215 [GRCh38] Chr13:28877352 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.780G>A (p.Thr260=) | single nucleotide variant | not provided [RCV000893439] | Chr13:28433852 [GRCh38] Chr13:29007989 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.2812A>G (p.Met938Val) | single nucleotide variant | not provided [RCV000958668] | Chr13:28322931 [GRCh38] Chr13:28897068 [GRCh37] Chr13:13q12.3 |
likely benign |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_002019.4(FLT1):c.405C>T (p.Phe135=) | single nucleotide variant | not provided [RCV000892299] | Chr13:28438329 [GRCh38] Chr13:29012466 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.1644A>G (p.Ile548Met) | single nucleotide variant | not provided [RCV000885485] | Chr13:28396976 [GRCh38] Chr13:28971113 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.1701G>A (p.Pro567=) | single nucleotide variant | not provided [RCV000925971] | Chr13:28390064 [GRCh38] Chr13:28964201 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.1302C>T (p.Ala434=) | single nucleotide variant | not provided [RCV000954876] | Chr13:28427293 [GRCh38] Chr13:29001430 [GRCh37] Chr13:13q12.3 |
benign |
NM_002019.4(FLT1):c.3602C>T (p.Pro1201Leu) | single nucleotide variant | not provided [RCV000885710] | Chr13:28311623 [GRCh38] Chr13:28885760 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.3558T>C (p.Thr1186=) | single nucleotide variant | not provided [RCV000889020] | Chr13:28311667 [GRCh38] Chr13:28885804 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.3552C>T (p.Tyr1184=) | single nucleotide variant | not provided [RCV000955476] | Chr13:28311673 [GRCh38] Chr13:28885810 [GRCh37] Chr13:13q12.3 |
likely benign |
NM_002019.4(FLT1):c.3054C>T (p.Cys1018=) | single nucleotide variant | not provided [RCV000933769] | Chr13:28321583 [GRCh38] Chr13:28895720 [GRCh37] Chr13:13q12.3 |
likely benign |
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 | copy number gain | not provided [RCV001258538] | Chr13:23775339..30534624 [GRCh37] Chr13:13q12.12-12.3 |
likely pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:3763 | AgrOrtholog |
COSMIC | FLT1 | COSMIC |
Ensembl Genes | ENSG00000102755 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000282397 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000437631 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000437841 | UniProtKB/Swiss-Prot | |
ENSP00000442630 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000443311 | UniProtKB/TrEMBL | |
ENSP00000484039 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000484385 | UniProtKB/TrEMBL | |
ENSP00000484832 | UniProtKB/TrEMBL | |
ENSP00000491097 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000282397 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000539099 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000540678 | UniProtKB/TrEMBL | |
ENST00000541932 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000543394 | UniProtKB/Swiss-Prot | |
ENST00000615611 | UniProtKB/TrEMBL | |
ENST00000615840 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000617835 | UniProtKB/TrEMBL | |
ENST00000639477 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000102755 | GTEx |
HGNC ID | HGNC:3763 | ENTREZGENE |
Human Proteome Map | FLT1 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_V-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Immunoglobulin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Kinase-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_kinase_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ser-Thr/Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_AS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tyr_kinase_rcpt_3_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VEGFR-2_TMD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VEGFR1_rcpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2321 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 2321 | ENTREZGENE |
OMIM | 165070 | OMIM |
Pfam | I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PF00047 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pkinase_Tyr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VEGFR-2_TMD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | FLT1 | RGD, PharmGKB |
PRINTS | TYRKINASE | UniProtKB/TrEMBL |
VEGFRECEPTR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RECEPTOR_TYR_KIN_III | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | IGc2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IGv | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TyrKc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF56112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A1W2PNW4_HUMAN | UniProtKB/TrEMBL |
B1AC84_HUMAN | UniProtKB/TrEMBL | |
H9N1E7_HUMAN | UniProtKB/TrEMBL | |
H9N1E8_HUMAN | UniProtKB/TrEMBL | |
L7RSL3 | ENTREZGENE, UniProtKB/TrEMBL | |
P17948 | ENTREZGENE | |
V9Q458_HUMAN | UniProtKB/TrEMBL | |
V9Q5H8_HUMAN | UniProtKB/TrEMBL | |
VGFR1_HUMAN | UniProtKB/Swiss-Prot | |
X2C8T1_HUMAN | UniProtKB/TrEMBL | |
X2CBY1_HUMAN | UniProtKB/TrEMBL | |
X2QEJ0_HUMAN | UniProtKB/TrEMBL | |
X2QIK8_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A3E342 | UniProtKB/Swiss-Prot |
A3E344 | UniProtKB/Swiss-Prot | |
A8KA71 | UniProtKB/Swiss-Prot | |
B0LPF1 | UniProtKB/Swiss-Prot | |
B2BF46 | UniProtKB/Swiss-Prot | |
B2BF47 | UniProtKB/Swiss-Prot | |
B2BF48 | UniProtKB/Swiss-Prot | |
B3FR89 | UniProtKB/Swiss-Prot | |
B5A923 | UniProtKB/Swiss-Prot | |
F5H5L6 | UniProtKB/Swiss-Prot | |
O60722 | UniProtKB/Swiss-Prot | |
P16057 | UniProtKB/Swiss-Prot | |
Q12954 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-12-10 | FLT1 | fms related receptor tyrosine kinase 1 | FLT1 | fms related tyrosine kinase 1 | Symbol and/or name change | 5135510 | APPROVED |
2016-01-19 | FLT1 | fms related tyrosine kinase 1 | FLT1 | fms-related tyrosine kinase 1 | Symbol and/or name change | 5135510 | APPROVED |
2012-11-28 | FLT1 | fms-related tyrosine kinase 1 | FLT1 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) | Symbol and/or name change | 5135510 | APPROVED |