Varaico: Literature-Extracted Genetic Variants

Gene:C1orf52

C1orf52

12 papers

Pfam Domains

DUF4660aa 18–127UCSCDomain of unknown function (DUF4660)

Gene Aliases

HGNC Name

chromosome 1 open reading frame 52

HGNC Alias Symbols

gm117; FLJ44982

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_198077.4
p.E5G
c.14A>G
1 paper
NM_198077.4
p.N50K
c.150C>G
1 paper
NM_198077.4
p.N50K
c.150C>A
1 paper
NM_198077.4
p.E61Q
c.181G>C
1 paper
NM_198077.4
p.N103N
c.309T>C
1 paper
NM_198077.4
p.K116R
c.347A>G
1 paper
NM_198077.4
p.P118P
c.354G>A
1 paper
NM_198077.4
p.E133E
c.399G>A
1 paper
NM_198077.4
p.L149V
c.445C>G
1 paper
NM_198077.4
p.D159Splc
c.475+889T>C
1 paper
NM_198077.4
p.D163H
c.487G>C
1 paper
NM_198077.4
p.R170H
c.509G>A
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