Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT2
Variant:p.L11_V12delFs

POMGNT2

94 papers

RefSeq Summary

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012].

Pfam Domains

Glyco_transf_61aa 140–362UCSCGlycosyltransferase 61

Gene Aliases

HGNC Name

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

HGNC Previous Symbols

C3orf39; GTDC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032806.6
p.L11_V12delFs
c.32_35del4
Surrounding Variants
1 paper
NM_032806.6
p.V6_L10delFs
c.17_29del13
1 paper
NM_032806.6
p.A17V
c.50C>T
1 paper
NM_032806.6
p.V6insFs
c.17_18ins13
1 paper
NM_032806.6
p.W20*
c.59G>A
1 paper
NM_032806.6
p.W20*
c.60G>A
1 paper
NM_032806.6
p.R24W
c.70C>T
1 paper
NM_032806.6
p.A17_A29del13
c.49_86del39
2 papers
NM_032806.6
p.L32_E35del4
c.94_104del12
1 paper
NM_032806.6
p.E44K
c.130G>A
1 paper
NM_032806.6
p.Q58L
c.173A>T
1 paper
NM_032806.6
p.G64S
c.190G>A
1 paper
NM_032806.6
p.T70M
c.209C>T
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