Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.P880R

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
1 paper
NM_199511.3
p.P880R
c.2639C>G
Surrounding Variants
1 paper
NM_199511.3
p.G870R
c.2608G>C
1 paper
NM_199511.3
p.G870R
c.2608G>A
2 papers
NM_199511.3
p.S895L
c.2684C>T
1 paper
NM_199511.3
p.R900_Q901insFs
c.2700_2701ins5
1 paper
NM_199511.3
p.Q901fs
c.2701_2702fs
1 paper
NM_199511.3
p.V845I
c.2533G>A
1 paper
NM_199511.3
p.G922V
c.2765G>T
3 papers
NM_199511.3
p.Y938H
c.2812T>C
1 paper
NM_199511.3
p.R939G
c.2815C>G
1 paper
NM_199511.3
p.G827*
c.2479G>T
1 paper
NM_199511.3
p.A805V
c.2414C>T
1 paper
NM_199511.3
p.A805S
c.2413G>T
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