Varaico: Literature-Extracted Genetic Variants

Gene:CCDC116
Variant:p.G385A

CCDC116

58 papers

Pfam Domains

DUF4702aa 18–404UCSCDomain of unknown function (DUF4702)

Gene Aliases

HGNC Name

coiled-coil domain containing 116

HGNC Alias Symbol

FLJ36046

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_152612.3
p.G385A
c.1154G>C
Surrounding Variants
1 paper
NM_152612.3
p.S388F
c.1163C>T
1 paper
NM_152612.3
p.F398F
c.1194C>T
1 paper
NM_152612.3
p.R367fs
c.1099_1100fs
2 papers
NM_152612.3
p.S365fs
c.1093_1094fs
3 papers
NM_152612.3
p.S365delFs
c.1094delC
1 paper
NM_152612.3
p.Q361K
c.1081C>A
1 paper
NM_152612.3
p.R308C
c.922C>T
1 paper
NM_152612.3
p.N302S
c.905A>G
1 paper
NM_152612.3
p.R299H
c.896G>A
3 papers
NM_152612.3
p.E264K
c.790G>A
1 paper
NM_152612.3
p.V252M
c.754G>A
1 paper
NM_152612.3
p.S240P
c.718T>C
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