Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP1
Variant:p.R353W

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.R353W
c.1057C>T
Surrounding Variants
1 paper
NM_018957.6
p.E394Q
c.1180G>C
1 paper
NM_018957.6
p.N398Y
c.1192A>T
1 paper
NM_018957.6
p.R312H
c.935G>A
1 paper
NM_018957.6
p.A410V
c.1229C>T
2 papers
NM_018957.6
p.L285V
c.853C>G
1 paper
NM_018957.6
p.D260G
c.779A>G
1 paper
NM_018957.6
p.D260G
c.779A>G
1 paper
NM_018957.6
p.G257fs
c.769_770fs
1 paper
NM_018957.6
p.N476N
c.1428C>T
1 paper
NM_018957.6
p.P511L
c.1532C>T
1 paper
NM_018957.6
p.A518T
c.1552G>A
1 paper
NM_018957.6
p.A526T
c.1576G>A
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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."