Varaico: Literature-Extracted Genetic Variants

Gene:CCDC116
Variant:p.E454K

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.E454K
c.1360G>A
Surrounding Variants
1 paper
NM_152612.3
p.F453F
c.1359C>T
1 paper
NM_152612.3
p.F464insFs
c.1391_1392ins25
1 paper
NM_152612.3
p.Q442*
c.1324C>T
1 paper
NM_152612.3
p.P467P
c.1401C>T
2 papers
NM_152612.3
p.D437N
c.1309G>A
1 paper
NM_152612.3
p.A436T
c.1306G>A
1 paper
NM_152612.3
p.E434E
c.1302G>A
1 paper
NM_152612.3
p.D474N
c.1420G>A
1 paper
NM_152612.3
p.H426D
c.1276C>G
1 paper
NM_152612.3
p.P414P
c.1242G>T
1 paper
NM_152612.3
p.K411N
c.1233G>C
1 paper
NM_152612.3
p.K411N
c.1233G>T
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