Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.E309G

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_001029835.2
p.E309G
c.926A>G
Surrounding Variants
1 paper
NM_031443.4
p.S289N
c.866G>A
6 papers
NM_001029835.2
p.K305K
c.915G>A
1 paper
NM_031443.4
p.A293T
c.877G>A
2 papers
NM_031443.4
p.S294N
c.881G>A
1 paper
NM_031443.4
p.A279T
c.835G>A
2 papers
NM_031443.4
p.L298M
c.892C>A
1 paper
NM_031443.4
p.L298L
c.894G>T
12 papers
NM_031443.4
p.T305T
c.915G>A
1 paper
NM_031443.4
p.F270L
c.810C>A
1 paper
NM_031443.4
p.F270L
c.810C>G
1 paper
NM_031443.4
p.T305_L306Splc
c.915+2T>C
1 paper
NM_031443.4
p.F270L
c.808T>C
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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."