Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K10_P11Splc

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
Selected Variant
2 papers
NM_031443.4
p.K10_P11Splc
c.30+5G>A
Surrounding Variants
3 papers
NM_031443.4
p.K10_P11Splc
c.30+1G>A
7 papers
NM_031443.4
p.K10K
c.30G>A
1 paper
NM_031443.4
p.K10N
c.30G>C
1 paper
NM_031443.4
p.K10N
c.30G>T
1 paper
NM_031443.4
p.G8delFs
c.23delG
2 papers
NM_031443.4
p.K6K
c.18G>A
1 paper
NM_031443.4
p.G5D
c.14G>A
1 paper
NM_031443.4
p.E4D
c.12G>C
4 papers
NM_031443.4
p.E2Fs
c.6delinsTTFs
2 papers
NM_031443.4
p.E2Fs
c.5delinsTTFs
1 paper
NM_031443.4
p.E2delins
c.5_6delinsTT
2 papers
NM_031443.4
p.M1V
c.1A>G
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."