Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80

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
1–12 of 209 variants
4 papers
NM_199511.3
p.H473Y
c.1417C>T
3 papers
NM_199511.3
p.Y938H
c.2812T>C
2 papers
NM_199511.3
p.H54H
c.162C>T
2 papers
NM_199511.3
p.T65S
c.193A>T
2 papers
NM_199511.3
p.A193T
c.577G>A
2 papers
NM_199511.3
p.L341F
c.1023G>T
2 papers
NM_199511.3
p.L341F
c.1023G>C
2 papers
NM_199511.3
p.T352P
c.1054A>C
2 papers
NM_199511.3
p.A368V
c.1103C>T
2 papers
NM_199511.3
p.E549K
c.1645G>A
2 papers
NM_199511.3
p.D614G
c.1841A>G
2 papers
NM_199511.3
p.S895L
c.2684C>T
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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."