Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.Q519K

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.Q519K
c.1555C>A
Surrounding Variants
1 paper
NM_199511.3
p.S518F
c.1553C>T
1 paper
NM_199511.3
p.K509_D522del14
c.1525_1565del42
1 paper
NM_199511.3
p.R514Q
c.1541G>A
1 paper
NM_199511.3
p.L502_D511del10
c.1504_1532del30
1 paper
NM_199511.3
p.E507A
c.1520A>C
1 paper
NM_199511.3
p.K533insFs
c.1599dupA
1 paper
NM_199511.3
p.N504_E505ins4
c.1510_1514ins12
1 paper
NM_199511.3
p.A534fs
c.1600_1601fs
1 paper
NM_199511.3
p.P493L
c.1478C>T
1 paper
NM_199511.3
p.P493S
c.1477C>T
1 paper
NM_199511.3
p.K548K
c.1644G>A
2 papers
NM_199511.3
p.E549K
c.1645G>A
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