Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.F604L

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.F604L
c.1810T>C
Surrounding Variants
1 paper
NM_199511.3
p.F604L
c.1812C>G
1 paper
NM_199511.3
p.F604L
c.1812C>A
2 papers
NM_199511.3
p.D614G
c.1841A>G
1 paper
NM_199511.3
p.K586Q
c.1756A>C
1 paper
NM_199511.3
p.K564E
c.1690A>G
1 paper
NM_199511.3
p.A559S
c.1675G>T
1 paper
NM_199511.3
p.N558D
c.1672A>G
1 paper
NM_199511.3
p.N556Y
c.1666A>T
1 paper
NM_199511.3
p.K553fs
c.1657_1658fs
1 paper
NM_199511.3
p.K550K
c.1650G>A
1 paper
NM_199511.3
p.E549E
c.1647G>A
1 paper
NM_199511.3
p.E549Fs
c.1646delinsCAAFs
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