Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.L115R

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
4 papers
NM_031443.4
p.L115R
c.344T>G
Surrounding Variants
1 paper
NM_031443.4
p.S116P
c.346T>C
5 papers
NM_031443.4
p.L113P
c.338T>C
1 paper
NM_001029835.2
p.L134insFs
c.401_402ins4
1 paper
NM_001029835.2
p.L134insFs
c.401_402ins5
1 paper
NM_031443.4
p.A117A
c.351G>A
1 paper
NM_031443.4
p.L113_S116del4
c.337_347del12
1 paper
NM_031443.4
p.Y118insFs
c.353_354insA
3 papers
NM_031443.4
p.N119_A123del0
c.355_369del15
2 papers
NM_031443.4
p.Y118*
c.354C>A
1 paper
NM_031443.4
p.Y118_N119insFs
c.354_355insA
2 papers
NM_031443.4
p.Y118*
c.354C>G
2 papers
NM_031443.4
p.A111P
c.331G>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."