Varaico: Literature-Extracted Genetic Variants

Gene:C1orf56
Variant:p.S143_Q144delFs

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
2 papers
NM_017860.5
p.S143_Q144delFs
c.427_430del4
Surrounding Variants
1 paper
NM_017860.5
p.S143_Q144del2
c.427_431del6
1 paper
NM_017860.5
p.I140delFs
c.418delA
2 papers
NM_017860.5
p.S152*
c.455C>A
2 papers
NM_017860.5
p.S152*
c.455C>G
1 paper
NM_017860.5
p.G159W
c.475G>T
1 paper
NM_017860.5
p.P178S
c.532C>T
1 paper
NM_017860.5
p.P182P
c.546G>A
1 paper
NM_017860.5
p.T92A
c.274A>G
1 paper
NM_017860.5
p.A88S
c.262G>T
1 paper
NM_017860.5
p.A72G
c.215C>G
1 paper
NM_017860.5
p.E67K
c.199G>A
1 paper
NM_017860.5
p.S219N
c.656G>A
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