Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.P421_P422insFs

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.P421_P422insFs
c.1263_1264insC
Surrounding Variants
1 paper
NM_012120.3
p.P422S
c.1264C>T
1 paper
NM_012120.3
p.Y409Y
c.1227C>T
1 paper
NM_012120.3
p.R403K
c.1208G>A
1 paper
NM_012120.3
p.R403G
c.1207A>G
4 papers
NM_012120.3
p.L402L
c.1204C>T
1 paper
NM_012120.3
p.P395H
c.1184C>A
1 paper
NM_012120.3
p.P394S
c.1180C>T
1 paper
NM_012120.3
p.T393I
c.1178C>T
1 paper
NM_012120.3
p.P388S
c.1162C>T
1 paper
NM_012120.3
p.P385S
c.1153C>T
1 paper
NM_012120.3
p.P382S
c.1144C>T
1 paper
NM_012120.3
p.P379S
c.1135C>T
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