Varaico: Literature-Extracted Genetic Variants

Gene:CCDC80
Variant:p.R77R

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.R77R
c.231G>A
Surrounding Variants
1 paper
NM_199511.3
p.R77K
c.230G>A
1 paper
NM_199511.3
p.R78insFs
c.232dupA
1 paper
NM_199511.3
p.S79delFs
c.235delT
1 paper
NM_199511.3
p.V80V
c.240G>C
1 paper
NM_199511.3
p.P81A
c.241C>G
1 paper
NM_199511.3
p.L74F
c.220C>T
1 paper
NM_199511.3
p.L74I
c.220C>A
1 paper
NM_199511.3
p.V82E
c.245T>A
1 paper
NM_199511.3
p.L83del1
c.247_249delCAA
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.A86delFs
c.257delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."