Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.A179S

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.A179S
c.535G>T
Surrounding Variants
1 paper
NM_031443.4
p.L177H
c.530T>A
1 paper
NM_001029835.2
p.L198R
c.593T>G
1 paper
NM_031443.4
p.S181insFs
c.541_542insGG
1 paper
NM_031443.4
p.G176S
c.526G>A
1 paper
NM_031443.4
p.L182Fs
c.546delinsTAFs
2 papers
NM_031443.4
p.S185_P189delFs
c.554_567del14
1 paper
NM_031443.4
p.G188insFs
c.563_564dupGG
4 papers
NM_031443.4
p.L169fs
c.505_506fs
1 paper
NM_031443.4
p.L169_E172del4
c.505_515del12
1 paper
NM_031443.4
p.Q167*
c.499C>T
4 papers
NM_031443.4
p.S168delFs
c.502_503delAG
1 paper
NM_031443.4
p.C193*
c.579C>A
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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."