Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.K346K

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.K346K
c.1038G>A
Surrounding Variants
3 papers
NM_012120.3
p.K346N
c.1038G>C
3 papers
NM_012120.3
p.K346N
c.1038G>T
1 paper
NM_012120.3
p.A345delFs
c.1033delG
1 paper
NM_012120.3
p.P342R
c.1025C>G
1 paper
NM_012120.3
p.P342fs
c.1024_1025fs
1 paper
NM_012120.3
p.P341S
c.1021C>T
1 paper
NM_012120.3
p.P336_K337Splc
c.1009-1G>C
1 paper
NM_012120.3
p.P350S
c.1048C>T
1 paper
NM_012120.3
p.S363F
c.1088C>T
1 paper
NM_012120.3
p.E367G
c.1100A>G
1 paper
NM_012120.3
p.K369N
c.1107G>C
1 paper
NM_012120.3
p.K369N
c.1107G>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."