Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.H54H

CCDC80

136 papers

Pfam Domains

DUF4174aa 141–270UCSCDomain of unknown function (DUF4174)
DUF4174aa 615–749UCSCDomain of unknown function (DUF4174)
DUF4174aa 771–902UCSCDomain of unknown function (DUF4174)

Gene Aliases

HGNC Name

coiled-coil domain containing 80

HGNC Previous Symbol

LINC01279

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_199511.3
p.H54H
c.162C>T
Surrounding Variants
2 papers
NM_199511.3
p.T65S
c.193A>T
1 paper
NM_199511.3
p.L66M
c.196C>A
1 paper
NM_199511.3
p.P39P
c.117T>A
1 paper
NM_199511.3
p.L74F
c.220C>T
1 paper
NM_199511.3
p.L74I
c.220C>A
1 paper
NM_199511.3
p.H33L
c.98A>T
1 paper
NM_199511.3
p.H33R
c.98A>G
1 paper
NM_199511.3
p.S32N
c.95G>A
1 paper
NM_199511.3
p.R77K
c.230G>A
1 paper
NM_199511.3
p.R77R
c.231G>A
1 paper
NM_199511.3
p.G31V
c.92G>T
1 paper
NM_199511.3
p.G31D
c.92G>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."