Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.L487R

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.L487R
c.1460T>G
Surrounding Variants
1 paper
NM_012120.3
p.L487V
c.1459C>G
1 paper
NM_012120.3
p.T490A
c.1468A>G
1 paper
NM_012120.3
p.S482F
c.1445C>T
1 paper
NM_012120.3
p.R493*
c.1477A>T
2 papers
NM_012120.3
p.P494delFs
c.1481delC
1 paper
NM_012120.3
p.I480K
c.1439T>A
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
1 paper
NM_012120.3
p.P502_R504del3
c.1504_1511del9
1 paper
NM_012120.3
p.P502A
c.1504C>G
2 papers
NM_012120.3
p.D473Splc
c.1418-137G>A
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