Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP1
Variant:p.S101R

SH3BP1

53 papers

RefSeq Summary

This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial jun...

Pfam Domains

BARaa 2–254UCSCBAR domain
RhoGAPaa 290–436UCSCRhoGAP domain

Gene Aliases

HGNC Name

SH3 domain binding protein 1

HGNC Alias Symbol

ARHGAP43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018957.6
p.S101R
c.303C>A
Surrounding Variants
1 paper
NM_018957.6
p.S101R
c.303C>G
1 paper
NM_018957.6
p.S101R
c.301A>C
1 paper
NM_018957.6
p.L98L
c.294G>A
1 paper
NM_018957.6
p.Q107E
c.319C>G
1 paper
NM_018957.6
p.D151D
c.453C>T
1 paper
NM_018957.6
p.D89D
c.267C>T
1 paper
NM_018957.6
p.V69_K70Splc
c.208-4G>T
1 paper
NM_018957.6
p.L159P
c.476T>C
1 paper
NM_018957.6
p.G174S
c.520G>A
1 paper
NM_018957.6
p.G177delins
c.530_531delinsCG
1 paper
NM_018957.6
p.A185V
c.554C>T
1 paper
NM_018957.6
p.C205F
c.614G>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."