Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.A292E

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.A292E
c.875C>A
Surrounding Variants
1 paper
NM_199511.3
p.A292V
c.875C>T
1 paper
NM_199511.3
p.G288C
c.862G>T
1 paper
NM_199511.3
p.G297C
c.889G>T
1 paper
NM_199511.3
p.G298*
c.892G>T
1 paper
NM_199511.3
p.G298A
c.893G>C
1 paper
NM_199511.3
p.D296_G297del2
c.886_890del6
1 paper
NM_199511.3
p.S305S
c.915C>T
1 paper
NM_199511.3
p.R268K
c.803G>A
1 paper
NM_199511.3
p.R267H
c.800G>A
1 paper
NM_199511.3
p.Y258_V260del3
c.772_779del9
1 paper
NM_199511.3
p.K310_T323del14
c.928_968del42
1 paper
NM_199511.3
p.R327W
c.979C>T
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