Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP

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
1–12 of 207 variants
14 papers
NM_012120.3
p.T374A
c.1120A>G
13 papers
NM_012120.3
p.K301M
c.902A>T
10 papers
NM_012120.3
p.M496I
c.1488G>A
8 papers
NM_012120.3
p.M496I
c.1488G>C
8 papers
NM_012120.3
p.M496I
c.1488G>T
8 papers
NM_012120.3
p.R612*
c.1834C>T
8 papers
NM_012120.3
p.K633R
c.1898A>G
5 papers
NM_012120.3
p.R74M
c.221G>T
5 papers
NM_012120.3
p.E237Q
c.709G>C
4 papers
NM_012120.3
p.L402L
c.1204C>T
3 papers
NM_012120.3
p.K346N
c.1038G>C
3 papers
NM_012120.3
p.K346N
c.1038G>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."