Varaico: Literature-Extracted Genetic Variants

Gene:CCM2L
Variant:p.Q95L

CCM2L

35 papers

Pfam Domains

CCM2_Caa 403–502UCSCCerebral cavernous malformation protein, harmonin-homology

Gene Aliases

HGNC Name

CCM2 like scaffold protein

HGNC Previous Symbol

C20orf160

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365692.1
p.Q95L
c.284A>T
Surrounding Variants
1 paper
NM_001365692.1
p.T92_A93ins1
c.276_277insGAC
1 paper
NM_001365692.1
p.E85Q
c.253G>C
1 paper
NM_001365692.1
p.A140T
c.418G>A
1 paper
NM_001365692.1
p.G218_G219ins1
c.654_655insGGC
1 paper
NM_001365692.1
p.W247*
c.740G>A
1 paper
NM_001365692.1
p.W247*
c.741G>A
1 paper
NM_001365692.1
p.A260A
c.780G>A
1 paper
NM_001365692.1
p.D291N
c.871G>A
1 paper
NM_001365692.1
p.P295S
c.883C>T
1 paper
NM_001365692.1
p.D298N
c.892G>A
1 paper
NM_001365692.1
p.L306R
c.917T>G
1 paper
NM_001365692.1
p.R311_D312Splc
c.933+86G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."