Varaico: Literature-Extracted Genetic Variants

Gene:C1orf56
Variant:p.S239R

C1orf56

32 papers

RefSeq Summary

This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpresse...

Pfam Domains

PMSI1aa 23–336UCSCProtein missing in infertile sperm 1, putative

Gene Aliases

HGNC Name

chromosome 1 open reading frame 56

HGNC Alias Symbols

FLJ20519; MENT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017860.5
p.S239R
c.717C>G
Surrounding Variants
1 paper
NM_017860.5
p.S239R
c.717C>A
1 paper
NM_017860.5
p.S239R
c.715A>C
1 paper
NM_017860.5
p.L241I
c.721C>A
1 paper
NM_017860.5
p.H245Q
c.735C>A
1 paper
NM_017860.5
p.H245Q
c.735C>G
1 paper
NM_017860.5
p.G231E
c.692G>A
1 paper
NM_017860.5
p.S230F
c.689C>T
1 paper
NM_017860.5
p.G224V
c.671G>T
1 paper
NM_017860.5
p.S219N
c.656G>A
1 paper
NM_017860.5
p.T286P
c.856A>C
1 paper
NM_017860.5
p.T287P
c.859A>C
1 paper
NM_017860.5
p.P182P
c.546G>A
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