Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.A101V

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.A101V
c.302C>T
Surrounding Variants
1 paper
NM_199511.3
p.A101T
c.301G>A
1 paper
NM_199511.3
p.N98_A100insFs
c.292_298dup7
1 paper
NM_199511.3
p.A100delFs
c.298delC
1 paper
NM_199511.3
p.G99delFs
c.296_297delCC
1 paper
NM_199511.3
p.A100T
c.298G>A
1 paper
NM_199511.3
p.G99G
c.297G>C
1 paper
NM_199511.3
p.I97_G99Fs
c.290_295delinsCCCGFs
1 paper
NM_199511.3
p.I97insFs
c.290dupT
1 paper
NM_199511.3
p.E105G
c.314A>G
1 paper
NM_199511.3
p.E105E
c.315G>A
1 paper
NM_199511.3
p.R94_S95insFs
c.280_284dup5
1 paper
NM_199511.3
p.R107G
c.319A>G
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