Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF3

ARHGEF3

69 papers

RefSeq Summary

Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleoti...

Pfam Domains

RhoGEFaa 126–302UCSCRhoGEF domain
SOS1_NGEF_PHaa 324–447UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 3

HGNC Alias Symbols

STA3; XPLN; GEF3; DKFZP434F2429

Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
5 papers
NM_019555.3
p.L341V
c.1021C>G
3 papers
NM_019555.3
p.L335V
c.1003T>G
2 papers
NM_019555.3
p.P245T
c.733C>A
2 papers
NM_019555.3
p.N432S
c.1295A>G
2 papers
NM_019555.3
p.E464_N469insFs
c.1392_1405dup14
2 papers
NM_019555.3
p.N469fs
c.1405_1406fs
1 paper
NM_019555.3
p.A3fs
c.7_8fs
1 paper
NM_019555.3
p.K4N
c.12G>C
1 paper
NM_019555.3
p.D5H
c.13G>C
1 paper
NM_019555.3
p.P22L
c.65C>T
1 paper
NM_019555.3
p.R38L
c.113G>T
1 paper
NM_019555.3
p.S47W
c.140C>G
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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."