Varaico: Literature-Extracted Genetic Variants

Gene:CCM2

CCM2

172 papers

RefSeq Summary

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein...

Pfam Domains

CCM2_Caa 287–387UCSCCerebral cavernous malformation protein, harmonin-homology

Gene Aliases

HGNC Name

CCM2 scaffold protein

HGNC Previous Symbol

C7orf22

Papers
RefSeq ID
Protein change
DNA change
1–12 of 241 variants
20 papers
NM_031443.4
p.R19*
c.55C>T
20 papers
NM_031443.4
p.V120I
c.358G>A
16 papers
NM_031443.4
p.L198R
c.593T>G
12 papers
NM_031443.4
p.T305T
c.915G>A
9 papers
NM_031443.4
p.V53I
c.157G>A
7 papers
NM_031443.4
p.K10K
c.30G>A
6 papers
NM_031443.4
p.K68_Y69Splc
c.205-36A>G
6 papers
NM_001029835.2
p.K305K
c.915G>A
5 papers
NM_031443.4
p.L113P
c.338T>C
5 papers
NM_031443.4
p.T305_L306Splc
c.915+119C>T
4 papers
NM_031443.4
p.E2Fs
c.6delinsTTFs
4 papers
NM_031443.4
p.A32delFs
c.95delC
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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."