Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.S134S

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.S134S
c.402G>A
Surrounding Variants
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
1 paper
NM_199511.3
p.S134delFs
c.402delC
1 paper
NM_199511.3
p.P133S
c.397C>T
1 paper
NM_199511.3
p.R131C
c.391C>T
1 paper
NM_199511.3
p.R126_R128insFs
c.377_383dup7
1 paper
NM_199511.3
p.R128K
c.383G>A
1 paper
NM_199511.3
p.R126insFs
c.377_378ins7
1 paper
NM_199511.3
p.R126Q
c.377G>A
1 paper
NM_199511.3
p.S123delFs
c.367delA
1 paper
NM_199511.3
p.E121delFs
c.363delC
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