Varaico: Literature-Extracted Genetic Variants

Gene:RABGAP1
Variant:p.A280T

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.A280T
c.838G>A
Surrounding Variants
1 paper
NM_012197.4
p.R268C
c.802C>T
1 paper
NM_012197.4
p.D302Y
c.904G>T
1 paper
NM_012197.4
p.R249W
c.745C>T
1 paper
NM_012197.4
p.T234A
c.700A>G
2 papers
NM_012197.4
p.P226S
c.676C>T
1 paper
NM_012197.4
p.K214insFs
c.642dupA
1 paper
NM_012197.4
p.R197Splc
c.591-1G>T
1 paper
NM_012197.4
p.P189L
c.566C>T
1 paper
NM_012197.4
p.S187L
c.560C>T
1 paper
NM_012197.4
p.E166*
c.496G>T
1 paper
NM_012197.4
p.A156V
c.467C>T
1 paper
NM_012197.4
p.S144S
c.432C>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."