Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP1
Variant:p.R283T

ARHGAP1

126 papers

RefSeq Summary

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts wi...

Pfam Domains

CRAL_TRIO_2aa 82–216UCSCDivergent CRAL/TRIO domain
RhoGAPaa 260–405UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 1

HGNC Alias Symbols

RhoGAP; p50rhoGAP; CDC42GAP; Cdc42GAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004308.5
p.R283T
c.848G>C
Surrounding Variants
1 paper
NM_004308.5
p.G279D
c.836G>A
1 paper
NM_004308.5
p.R291W
c.871C>T
1 paper
NM_004308.5
p.R264G
c.790A>G
4 papers
NM_004308.5
p.L263F
c.787C>T
1 paper
NM_004308.5
p.I261T
c.782T>C
1 paper
NM_004308.5
p.S245L
c.734C>T
1 paper
NM_004308.5
p.V303V
c.909G>T
1 paper
NM_004308.5
p.D306N
c.916G>A
1 paper
NM_004308.5
p.Y308D
c.922T>G
1 paper
NM_004308.5
p.Y308F
c.923A>T
1 paper
NM_004308.5
p.L318F
c.952C>T
1 paper
NM_004308.5
p.K212Splc
c.636-54C>T
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