Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.I596M

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.I596M
c.1788T>G
Surrounding Variants
1 paper
NM_012120.3
p.E592_L593ins4
c.1774_1778ins12
1 paper
NM_012120.3
p.D603Y
c.1807G>T
1 paper
NM_012120.3
p.Q589H
c.1767G>T
1 paper
NM_012120.3
p.H604Y
c.1810C>T
1 paper
NM_012120.3
p.D584H
c.1750G>C
1 paper
NM_012120.3
p.N581K
c.1743T>A
1 paper
NM_012120.3
p.N581K
c.1743T>G
1 paper
NM_012120.3
p.K579fs
c.1735_1736fs
1 paper
NM_012120.3
p.K579*
c.1735A>T
2 papers
NM_012120.3
p.K579fs
c.1735_1736fs
1 paper
NM_012120.3
p.V578insFs
c.1734dupG
1 paper
NM_012120.3
p.V578fs
c.1732_1733fs
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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."