Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.D120N

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.D120N
c.358G>A
Surrounding Variants
1 paper
NM_199511.3
p.I118_R119insFs
c.353_356dup4
1 paper
NM_199511.3
p.D120del1
c.358_360delATC
1 paper
NM_199511.3
p.R119_E121del0
c.355_363del9
1 paper
NM_199511.3
p.E121delFs
c.363delC
1 paper
NM_199511.3
p.S123delFs
c.367delA
1 paper
NM_199511.3
p.R115insFs
c.345dupT
1 paper
NM_199511.3
p.S113_P114insFs
c.338_341dup4
1 paper
NM_199511.3
p.P114fs
c.340_341fs
1 paper
NM_199511.3
p.P114R
c.341C>G
1 paper
NM_199511.3
p.P114T
c.340C>A
1 paper
NM_199511.3
p.S113S
c.339T>G
1 paper
NM_199511.3
p.R126insFs
c.377_378ins7
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