Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.P88Q

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.P88Q
c.263C>A
Surrounding Variants
1 paper
NM_199511.3
p.P88L
c.263C>T
1 paper
NM_199511.3
p.P88R
c.263C>G
1 paper
NM_199511.3
p.A86_R87del1
c.258_260delCGA
1 paper
NM_199511.3
p.R87C
c.259C>T
1 paper
NM_199511.3
p.A86delFs
c.257delG
1 paper
NM_199511.3
p.A86V
c.257C>T
1 paper
NM_199511.3
p.A86G
c.257C>G
1 paper
NM_199511.3
p.E90insFs
c.269dupA
1 paper
NM_199511.3
p.E90delFs
c.269delT
1 paper
NM_199511.3
p.L83del1
c.247_249delCAA
1 paper
NM_199511.3
p.V82E
c.245T>A
1 paper
NM_199511.3
p.S95L
c.284C>T
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