Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.G293A

CD2AP

272 papers

RefSeq Summary

This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin bin...

Pfam Domains

SH3_9aa 6–55UCSCVariant SH3 domain
SH3_9aa 115–163UCSCVariant SH3 domain
SH3_1aa 275–322UCSCSH3 domain

Gene Aliases

HGNC Name

CD2 associated protein

HGNC Alias Symbol

CMS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012120.3
p.G293A
c.878G>C
Surrounding Variants
1 paper
NM_012120.3
p.I295insFs
c.884_885ins5
1 paper
NM_012120.3
p.L298*
c.893T>A
1 paper
NM_012120.3
p.E287K
c.859G>A
13 papers
NM_012120.3
p.K301M
c.902A>T
1 paper
NM_012120.3
p.N284S
c.851A>G
1 paper
NM_012120.3
p.T283A
c.847A>G
1 paper
NM_012120.3
p.E281A
c.842A>C
1 paper
NM_012120.3
p.E281G
c.842A>G
1 paper
NM_012120.3
p.K301_E302Splc
c.903+30C>T
2 papers
NM_012120.3
p.A270Splc
c.809-135G>A
1 paper
NM_012120.3
p.T264S
c.791C>G
1 paper
NM_012120.3
p.T264P
c.790A>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."