Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.V20I

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
1 paper
NM_031443.4
p.V20I
c.58G>A
Surrounding Variants
20 papers
NM_031443.4
p.R19*
c.55C>T
2 papers
NM_031443.4
p.R19delFs
c.56delG
1 paper
NM_031443.4
p.R19fs
c.55_56fs
1 paper
NM_031443.4
p.K18_R19delFs
c.54_55delAC
1 paper
NM_031443.4
p.F21L
c.63C>G
1 paper
NM_031443.4
p.P16P
c.48A>G
2 papers
NM_031443.4
p.G12G
c.36A>G
1 paper
NM_031443.4
p.G12V
c.35G>T
2 papers
NM_031443.4
p.R28insFs
c.83_84insAG
1 paper
NM_031443.4
p.D29Fs
c.85_87delinsTFs
1 paper
NM_031443.4
p.R28_K30delFs
c.82_88del7
2 papers
NM_031443.4
p.R28insFs
c.82_83insAG
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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."