Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.I219T

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.I219T
c.656T>C
Surrounding Variants
1 paper
NM_012120.3
p.F220L
c.658T>C
1 paper
NM_012120.3
p.F220L
c.660T>A
1 paper
NM_012120.3
p.F220L
c.660T>G
1 paper
NM_012120.3
p.F216Y
c.647T>A
1 paper
NM_012120.3
p.R212Q
c.635G>A
1 paper
NM_012120.3
p.R212*
c.634C>T
2 papers
NM_012120.3
p.R228W
c.682C>T
1 paper
NM_012120.3
p.R228Q
c.683G>A
1 paper
NM_012120.3
p.T229insFs
c.686dupC
1 paper
NM_012120.3
p.R230*
c.688A>T
1 paper
NM_012120.3
p.Q207*
c.619C>T
1 paper
NM_012120.3
p.S232S
c.696C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."