Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.T264P

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.T264P
c.790A>C
Surrounding Variants
1 paper
NM_012120.3
p.T264S
c.791C>G
1 paper
NM_012120.3
p.T262I
c.785C>T
1 paper
NM_012120.3
p.I259insFs
c.776_777insG
1 paper
NM_012120.3
p.S256fs
c.766_767fs
1 paper
NM_012120.3
p.Q255insFs
c.764dupA
1 paper
NM_012120.3
p.T254T
c.762T>G
1 paper
NM_012120.3
p.I246F
c.736A>T
1 paper
NM_012120.3
p.L245*
c.734T>A
1 paper
NM_012120.3
p.L245*
c.734T>G
1 paper
NM_012120.3
p.P244H
c.731C>A
1 paper
NM_012120.3
p.P244S
c.730C>T
1 paper
NM_012120.3
p.K243_P244Splc
c.730-4C>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."