Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT3
Variant:p.I14I

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.I14I
c.42T>C
Surrounding Variants
1 paper
NM_014256.4
p.A16T
c.46G>A
1 paper
NM_014256.4
p.A16D
c.47C>A
1 paper
NM_014256.4
p.I17I
c.51C>T
1 paper
NM_014256.4
p.N10S
c.29A>G
1 paper
NM_014256.4
p.F20_T21delFs
c.60_61delCA
2 papers
NM_014256.4
p.R8Q
c.23G>A
1 paper
NM_014256.4
p.S26R
c.76A>C
1 paper
NM_014256.4
p.S26R
c.78T>A
1 paper
NM_014256.4
p.S26R
c.78T>G
1 paper
NM_014256.4
p.V29L
c.85G>C
1 paper
NM_014256.4
p.V29L
c.85G>T
2 papers
NM_014256.4
p.T54P
c.160A>C
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