Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.Q167*

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.Q167*
c.499C>T
Surrounding Variants
4 papers
NM_031443.4
p.S168delFs
c.502_503delAG
1 paper
NM_031443.4
p.L169_E172del4
c.505_515del12
4 papers
NM_031443.4
p.L169fs
c.505_506fs
2 papers
NM_031443.4
p.P165_S166insFs
c.495_496insC
1 paper
NM_031443.4
p.P165delFs
c.495delC
1 paper
NM_031443.4
p.S164_P165del2
c.490_494del6
3 papers
NM_031443.4
p.Q159*
c.475C>T
1 paper
NM_031443.4
p.G176S
c.526G>A
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.A179S
c.535G>T
1 paper
NM_031443.4
p.S181insFs
c.541_542insGG
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