Varaico: Literature-Extracted Genetic Variants

Gene:CCDC116
Variant:p.D597G

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
2 papers
NM_152612.3
p.D597G
c.1790A>G
Surrounding Variants
1 paper
NM_152612.3
p.E606K
c.1816G>A
1 paper
NM_152612.3
p.G570S
c.1708G>A
1 paper
NM_152612.3
p.L550fs
c.1648_1649fs
1 paper
NM_152612.3
p.T534N
c.1601C>A
1 paper
NM_152612.3
p.Q527H
c.1581G>C
1 paper
NM_152612.3
p.Q527H
c.1581G>T
1 paper
NM_152612.3
p.S515N
c.1544G>A
1 paper
NM_152612.3
p.D474N
c.1420G>A
1 paper
NM_152612.3
p.P467P
c.1401C>T
1 paper
NM_152612.3
p.F464insFs
c.1391_1392ins25
1 paper
NM_152612.3
p.E454K
c.1360G>A
1 paper
NM_152612.3
p.F453F
c.1359C>T
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