Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.A57fs

B3GNT3

74 papers

RefSeq Summary

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the subst...

Pfam Domains

Galactosyl_Taa 121–315UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3

HGNC Alias Symbols

B3GN-T3; beta3Gn-T3; HP10328; B3GNT-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014256.4
p.A57fs
c.169_170fs
Surrounding Variants
1 paper
NM_014256.4
p.P56_A57delFs
c.168_169delAG
1 paper
NM_014256.4
p.P56fs
c.166_167fs
2 papers
NM_014256.4
p.R55R
c.165C>T
2 papers
NM_014256.4
p.P58_A59delFs
c.174_175delGG
1 paper
NM_014256.4
p.R55P
c.164G>C
1 paper
NM_014256.4
p.P58P
c.174G>C
1 paper
NM_014256.4
p.A59P
c.175G>C
1 paper
NM_014256.4
p.A59fs
c.175_176fs
1 paper
NM_014256.4
p.P60_C61del2
c.178_182del6
2 papers
NM_014256.4
p.T54P
c.160A>C
1 paper
NM_014256.4
p.P60T
c.178C>A
1 paper
NM_014256.4
p.P60L
c.179C>T
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