RGD:13705501 Rat Genome Database

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Variant: RGD:13705501 -  Homo sapiens

RGD ID: 13705501
RS ID: rs1556041456
ClinVar ID: CV537035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAK3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 110,388,103
GRCh38 X 111,144,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128166.3:c.276+2679A>T
NM_001128167.3:c.276+2679A>T
NC_000023.10:g.110388103A>T
NG_008288.2:g.205591A>T
More... 		05/23/2018 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PAK3
Accession:XM_017029563
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDGLDNEEKPPAPPLRMNSNNRDSSALNHSSKPLPMAPEEKNKKARLRSIFPGGGDKTNKKKEKERPEISLPSDFEHTI
HVGFDAVTGEFTNSPFQSSRPVTVASSQSEGKMPDLYGSQMCPGKLPEGIPEQWARLLQTSNITKLEQKKNPQAVLDVLK
FYDSKETVNNQKYMSFTSGDKSAHGYIAAHPSSTKTASEPPLAPPVSEEEDEEEEEEEDENEPPPVIAPRPEHTKSIYTR
SVVESIASPAVPNKEVTPPSAENANSSTLYRNTDRQRKKSKMTDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYT
ALDIATGQEVAIKQMNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETCMDEGQI
AAVCRECLQALDFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAYGPKVD
IWSLGIMAIEMVEGEPPYLNENPLRALYLIATNGTPELQNPERLSAVFRDFLNRCLEMDVDRRGSAKELLQHPFLKLAKP
LSSLTPLIIAAKEAIKNSSR*

Gene Symbol:PAK3
Accession:XM_047442150
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLYTWSYTWTLKLKVGWEVRFLVFNDYKSSSFILPFLSQILQNSPFQSSRPVTVASSQSEGKMPDLYGSQMCPGKLPEG
IPEQWARLLQTSNITKLEQKKNPQAVLDVLKFYDSKETVNNQKYMSFTSGDKSAHGYIAAHPSSTKTASEPPLAPPVSEE
EDEEEEEEEDENEPPPVIAPRPEHTKSIYTRSVVESIASPAVPNKEVTPPSAENANSSTLYRNTDRQRKKSKMTDEEILE
KLRSIVSVGDPKKKYTRFEKIGQGASGTVYTALDIATGQEVAIKQMNLQQQPKKELIINEILVMRENKNPNIVNYLDSYL
VGDELWVVMEYLAGGSLTDVVTETCMDEGQIAAVCRECLQALDFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQIT
PEQSKRSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMVEGEPPYLNENPLRALYLIATNGTPELQNPERLSAVFR
DFLNRCLEMDVDRRGSAKELLQHPFLKLAKPLSSLTPLIIAAKEAIKNSSR*

Gene Symbol:PAK3
Accession:NM_001128168
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDGLDNEEKPPAPPLRMNSNNRDSSALNHSSKPLPMAPEEKNKKARLRSIFPGGGDKTNKKKEKERPEISLPSDFEHTI
HVGFDAVTGEFTNSPFQSSRPVTVASSQSEGKMPDLYGSQMCPGKLPEGIPEQWARLLQTSNITKLEQKKNPQAVLDVLK
FYDSKETVNNQKYMSFTSGDKSAHGYIAAHPSSTKTASEPPLAPPVSEEEDEEEEEEEDENEPPPVIAPRPEHTKSIYTR
SVVESIASPAVPNKEVTPPSAENANSSTLYRNTDRQRKKSKMTDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYT
ALDIATGQEVAIKQMNLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETCMDEGQI
AAVCRECLQALDFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAYGPKVD
IWSLGIMAIEMVEGEPPYLNENPLRALYLIATNGTPELQNPERLSAVFRDFLNRCLEMDVDRRGSAKELLQHPFLKLAKP
LSSLTPLIIAAKEAIKNSSR*

Gene Symbol:PAK3
Accession:NM_001128172
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDGLDNEEKPPAPPLRMNSNNRDSSALNHSSKPLPMAPEEKNKKARLRSIFPGGGDKTNKKKEKERPEISLPSDFEHTI
HVGFDAVTGEFTNSPFQSSRPVTVASSQSEGKMGIPEQWARLLQTSNITKLEQKKNPQAVLDVLKFYDSKETVNNQKYMS
FTSGDKSAHGYIAAHPSSTKTASEPPLAPPVSEEEDEEEEEEEDENEPPPVIAPRPEHTKSIYTRSVVESIASPAVPNKE
VTPPSAENANSSTLYRNTDRQRKKSKMTDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYTALDIATGQEVAIKQM
NLQQQPKKELIINEILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETCMDEGQIAAVCRECLQALDFLH
SNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSKRSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMVEGE
PPYLNENPLRALYLIATNGTPELQNPERLSAVFRDFLNRCLEMDVDRRGSAKELLQHPFLKLAKPLSSLTPLIIAAKEAI
KNSSR*

Gene Symbol:PAK3
Accession:XM_011530968
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324330
Location:INTRON

Gene Symbol:PAK3
Accession:XM_006724654
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530962
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324328
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324333
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324334
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128173
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324329
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029560
Location:INTRON

Gene Symbol:PAK3
Accession:XM_006724655
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128166
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324331
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029558
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530969
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442146
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324325
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442149
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128167
Location:INTRON

Gene Symbol:PAK3
Accession:XM_005262133
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530971
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324332
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324327
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029559
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442147
Location:INTRON

Gene Symbol:PAK3
Accession:NM_002578
Location:INTRON

Gene Symbol:PAK3
Accession:XM_005262132
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324326
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442148
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029557
Location:INTRON

Gene Symbol:PAK3
Accession:NR_136741
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136740
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136748
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136742
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136745
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136744
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136747
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136746
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136743
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000658051 CLINVAR
dbSNP (RS) rs1556041456 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PAK3 CLINVAR
OMIM 300142 CLINVAR