Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.S411*

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.S411*
c.1232C>A
Surrounding Variants
1 paper
NM_199511.3
p.S411*
c.1232C>G
1 paper
NM_199511.3
p.R406G
c.1216A>G
1 paper
NM_199511.3
p.P390_T399del10
c.1168_1196del30
1 paper
NM_199511.3
p.H423Y
c.1267C>T
1 paper
NM_199511.3
p.T398K
c.1193C>A
1 paper
NM_199511.3
p.W388C
c.1164G>T
1 paper
NM_199511.3
p.W388C
c.1164G>C
1 paper
NM_199511.3
p.L439F
c.1317G>T
1 paper
NM_199511.3
p.L439F
c.1317G>C
1 paper
NM_199511.3
p.T377_T378ins7
c.1129_1133ins21
1 paper
NM_199511.3
p.R374S
c.1122A>T
1 paper
NM_199511.3
p.R374S
c.1122A>C
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