Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1

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
1–12 of 70 variants
2 papers
NM_012197.4
p.P226S
c.676C>T
2 papers
NM_012197.4
p.A280T
c.838G>A
2 papers
NM_012197.4
p.R358Q
c.1073G>A
2 papers
NM_012197.4
p.R431H
c.1292G>A
1 paper
NM_012197.4
p.F25Y
c.74T>A
1 paper
NM_012197.4
p.Q61L
c.182A>T
1 paper
NM_012197.4
p.D74N
c.220G>A
1 paper
NM_012197.4
p.D74G
c.221A>G
1 paper
NM_012197.4
p.K84R
c.251A>G
1 paper
NM_012197.4
p.P108T
c.322C>A
1 paper
NM_012197.4
p.G113R
c.337G>A
1 paper
NM_012197.4
p.G113R
c.337G>C
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