Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.E54K

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.E54K
c.160G>A
Surrounding Variants
1 paper
NM_031443.4
p.E54_P55del2
c.160_164del6
1 paper
NM_031443.4
p.P55delFs
c.164_165delCA
1 paper
NM_031443.4
p.P55fs
c.163_164fs
3 papers
NM_031443.4
p.R57_L58delFs
c.169_172del4
9 papers
NM_031443.4
p.V53I
c.157G>A
1 paper
NM_031443.4
p.V53_E54delFs
c.157_161del5
1 paper
NM_031443.4
p.R57insFs
c.169dupA
1 paper
NM_031443.4
p.R57fs
c.169_170fs
1 paper
NM_031443.4
p.L58insFs
c.172_173ins10
2 papers
NM_031443.4
p.V45fs
c.133_134fs
1 paper
NM_001029835.2
p.T65S
c.194C>G
3 papers
NM_031443.4
p.V45delFs
c.134_135delTG
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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."