Varaico: Literature-Extracted Genetic Variants

Gene:CCDC127

CCDC127

28 papers

Pfam Domains

CCDC127aa 27–260UCSCCCDC127

Gene Aliases

HGNC Name

coiled-coil domain containing 127

HGNC Alias Symbol

FLJ25701

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
4 papers
NM_145265.3
p.A86T
c.256G>A
2 papers
NM_145265.3
p.E123*
c.367G>T
1 paper
NM_145265.3
p.M1K
c.2T>A
1 paper
NM_145265.3
p.A76T
c.226G>A
1 paper
NM_145265.3
p.A86S
c.256G>T
1 paper
NM_145265.3
p.E93K
c.277G>A
1 paper
NM_145265.3
p.E95E
c.285A>G
1 paper
NM_145265.3
p.R103Q
c.308G>A
1 paper
NM_145265.3
p.E104V
c.311A>T
1 paper
NM_145265.3
p.Q109*
c.325C>T
1 paper
NM_145265.3
p.K112fs
c.334_335fs
1 paper
NM_145265.3
p.R180H
c.539G>A
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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."