Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.H473Y

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
4 papers
NM_199511.3
p.H473Y
c.1417C>T
Surrounding Variants
1 paper
NM_199511.3
p.R471Q
c.1412G>A
1 paper
NM_199511.3
p.R464_D465del2
c.1390_1394del6
1 paper
NM_199511.3
p.V481M
c.1441G>A
1 paper
NM_199511.3
p.K486_P487insT
c.1456_1460ins3
1 paper
NM_199511.3
p.A488S
c.1462G>T
1 paper
NM_199511.3
p.P493S
c.1477C>T
1 paper
NM_199511.3
p.P493L
c.1478C>T
1 paper
NM_199511.3
p.N504_E505ins4
c.1510_1514ins12
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.E507A
c.1520A>C
1 paper
NM_199511.3
p.L502_D511del10
c.1504_1532del30
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