Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.A158Splc

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.A158Splc
c.472+1G>T
Surrounding Variants
1 paper
NM_031443.4
p.A158Splc
c.472+1G>A
3 papers
NM_001029835.2
p.A179Splc
c.535+1G>C
NM_031443.4
p.A158Splc
c.472+1G>C
1 paper
NM_031443.4
p.A158Splc
c.472+9G>C
4 papers
NM_031443.4
p.L155P
c.464T>C
1 paper
NM_031443.4
p.V154G
c.461T>G
1 paper
NM_031443.4
p.L152M
c.454C>A
1 paper
NM_031443.4
p.A149T
c.445G>A
1 paper
NM_001029835.2
p.D168delFs
c.502_503delGA
2 papers
NM_031443.4
p.R146W
c.436C>T
1 paper
NM_031443.4
p.A141T
c.421G>A
1 paper
NM_031443.4
p.V134insFs
c.401_402ins4
1 paper
NM_031443.4
p.V134insFs
c.401_402ins5
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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."