Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.H33fs

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.H33fs
c.97_98fs
Surrounding Variants
1 paper
NM_031443.4
p.H33L
c.98A>T
2 papers
NM_001029835.2
p.A53T
c.157G>A
4 papers
NM_031443.4
p.A32delFs
c.95delC
1 paper
NM_031443.4
p.K30delFs
c.90delG
1 paper
NM_031443.4
p.K35N
c.105G>C
1 paper
NM_031443.4
p.K35N
c.105G>T
1 paper
NM_031443.4
p.K30delFs
c.89_90delAG
1 paper
NM_031443.4
p.D29_K30insFs
c.87_88insC
1 paper
NM_031443.4
p.K30_A32delFs
c.88_94del7
1 paper
NM_031443.4
p.D29_K30delFs
c.87_88delTA
1 paper
NM_031443.4
p.D29fs
c.85_86fs
1 paper
NM_031443.4
p.E38_R39delFs
c.113_116del4
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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."