Varaico: Literature-Extracted Genetic Variants

Gene:CCDC116
Variant:p.E79K

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
1 paper
NM_152612.3
p.E79K
c.235G>A
Surrounding Variants
1 paper
NM_152612.3
p.E87Q
c.259G>C
2 papers
NM_152612.3
p.R96C
c.286C>T
1 paper
NM_152612.3
p.R96H
c.287G>A
1 paper
NM_152612.3
p.R96L
c.287G>T
1 paper
NM_152612.3
p.R96R
c.288C>T
1 paper
NM_152612.3
p.P107L
c.320C>T
1 paper
NM_152612.3
p.V109L
c.325G>C
1 paper
NM_152612.3
p.V109L
c.325G>T
1 paper
NM_152612.3
p.Q112P
c.335A>C
1 paper
NM_152612.3
p.R37W
c.109C>T
2 papers
NM_152612.3
p.G121R
c.361G>A
2 papers
NM_152612.3
p.G121R
c.361G>C
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