Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.V134delFs

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.V134delFs
c.400delG
Surrounding Variants
1 paper
NM_031443.4
p.V134_P135del2
c.400_404del6
1 paper
NM_031443.4
p.L132Fs
c.394_395delinsGATTFs
1 paper
NM_031443.4
p.V134insFs
c.401_402ins4
1 paper
NM_031443.4
p.V134insFs
c.401_402ins5
1 paper
NM_031443.4
p.A141T
c.421G>A
1 paper
NM_031443.4
p.A123P
c.367G>C
1 paper
NM_031443.4
p.L122R
c.365T>G
2 papers
NM_031443.4
p.V120D
c.359T>A
2 papers
NM_031443.4
p.R146W
c.436C>T
20 papers
NM_031443.4
p.V120I
c.358G>A
1 paper
NM_001029835.2
p.D168delFs
c.502_503delGA
2 papers
NM_031443.4
p.Y118*
c.354C>A
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