Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1
Variant:p.R431H

RABGAP1

59 papers

Pfam Domains

PIDaa 151–274UCSCPhosphotyrosine interaction domain (PTB/PID)
DUF3694aa 306–437UCSCKinesin protein
RabGAP-TBCaa 569–772UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

RAB GTPase activating protein 1

HGNC Alias Symbols

GAPCenA; TBC1D11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012197.4
p.R431H
c.1292G>A
Surrounding Variants
1 paper
NM_012197.4
p.P435L
c.1304C>T
1 paper
NM_012197.4
p.R446H
c.1337G>A
1 paper
NM_012197.4
p.M407I
c.1221G>A
1 paper
NM_012197.4
p.M407I
c.1221G>C
1 paper
NM_012197.4
p.M407I
c.1221G>T
1 paper
NM_012197.4
p.E398*
c.1192G>T
1 paper
NM_012197.4
p.T382M
c.1145C>T
2 papers
NM_012197.4
p.R358Q
c.1073G>A
1 paper
NM_012197.4
p.R345K
c.1034G>A
1 paper
NM_012197.4
p.D302Y
c.904G>T
2 papers
NM_012197.4
p.A280T
c.838G>A
1 paper
NM_012197.4
p.R268C
c.802C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."