Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K68_Y69Splc

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.K68_Y69Splc
c.205-2A>G
Surrounding Variants
1 paper
NM_031443.4
p.K68_Y69Splc
c.205-2A>C
1 paper
NM_031443.4
p.Y69_G71delFs
c.205_211del7
3 papers
NM_031443.4
p.K68_Y69Splc
c.205-1G>A
1 paper
NM_031443.4
p.Y69fs
c.205_206fs
1 paper
NM_031443.4
p.K68_Y69Splc
c.205-8T>C
1 paper
NM_031443.4
p.T74M
c.221C>T
1 paper
NM_031443.4
p.T74T
c.222G>A
1 paper
NM_031443.4
p.S75C
c.224C>G
1 paper
NM_031443.4
p.S75F
c.224C>T
1 paper
NM_031443.4
p.I76T
c.227T>C
1 paper
NM_031443.4
p.I76insFs
c.228dupA
1 paper
NM_031443.4
p.P77fs
c.229_230fs
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