Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.G147R

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.G147R
c.439G>A
Surrounding Variants
1 paper
NM_199511.3
p.V151G
c.452T>G
1 paper
NM_199511.3
p.V153A
c.458T>C
1 paper
NM_199511.3
p.S155delFs
c.464_465delTG
1 paper
NM_199511.3
p.S134delFs
c.402delC
1 paper
NM_199511.3
p.H158R
c.473A>G
1 paper
NM_199511.3
p.A159S
c.475G>T
1 paper
NM_199511.3
p.A159T
c.475G>A
1 paper
NM_199511.3
p.S134S
c.402G>A
1 paper
NM_199511.3
p.V153_A159ins2
c.458_475dup18
1 paper
NM_199511.3
p.S134L
c.401C>T
1 paper
NM_199511.3
p.S134P
c.400T>C
1 paper
NM_199511.3
p.L130_P133delFs
c.390_399del10
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