Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.R74M

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
5 papers
NM_012120.3
p.R74M
c.221G>T
Surrounding Variants
1 paper
NM_012120.3
p.R74K
c.221G>A
1 paper
NM_012120.3
p.E73E
c.219A>G
1 paper
NM_012120.3
p.K71N
c.213A>T
2 papers
NM_012120.3
p.I70F
c.208A>T
1 paper
NM_012120.3
p.L68insFs
c.203_204insC
1 paper
NM_012120.3
p.E62K
c.184G>A
2 papers
NM_012120.3
p.T61M
c.182C>T
1 paper
NM_012120.3
p.I57I
c.171T>C
1 paper
NM_012120.3
p.P91L
c.272C>T
2 papers
NM_012120.3
p.A92S
c.274G>T
1 paper
NM_012120.3
p.P97S
c.289C>T
1 paper
NM_012120.3
p.P97L
c.290C>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."