Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP1
Variant:p.T626P

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
2 papers
NM_018957.6
p.T626P
c.1876A>C
Surrounding Variants
1 paper
NM_018957.6
p.R632R
c.1894C>A
1 paper
NM_018957.6
p.R633H
c.1898G>A
1 paper
NM_018957.6
p.R636R
c.1908G>T
1 paper
NM_018957.6
p.S643R
c.1927A>C
1 paper
NM_018957.6
p.S643R
c.1929C>A
1 paper
NM_018957.6
p.S643R
c.1929C>G
1 paper
NM_018957.6
p.Q603P
c.1808A>C
1 paper
NM_018957.6
p.S651T
c.1951T>A
1 paper
NM_018957.6
p.P590P
c.1770G>A
1 paper
NM_018957.6
p.P587L
c.1760C>T
1 paper
NM_018957.6
p.S679fs
c.2035_2036fs
1 paper
NM_018957.6
p.T683P
c.2047A>C
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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."