Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.E195D

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.E195D
c.585G>C
Surrounding Variants
1 paper
NM_199511.3
p.E195D
c.585G>T
1 paper
NM_199511.3
p.G194G
c.582T>A
2 papers
NM_199511.3
p.A193T
c.577G>A
1 paper
NM_199511.3
p.S205R
c.615C>A
1 paper
NM_199511.3
p.Q208Q
c.624G>A
1 paper
NM_199511.3
p.E178K
c.532G>A
1 paper
NM_199511.3
p.L170_D174delFs
c.509_522del14
1 paper
NM_199511.3
p.D174N
c.520G>A
1 paper
NM_199511.3
p.L170_L171insFs
c.508_511dup4
1 paper
NM_199511.3
p.M168_L171delFs
c.502_511del10
1 paper
NM_199511.3
p.L170insFs
c.509dupT
1 paper
NM_199511.3
p.M168_S169insFs
c.504_505ins4
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