Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.I44T

B3GALNT1

57 papers

RefSeq Summary

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor sub...

Pfam Domains

Galactosyl_Taa 92–285UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-N-acetylgalactosaminyltransferase 1

HGNC Previous Symbol

B3GALT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003781.4
p.I44T
c.131T>C
Surrounding Variants
1 paper
NM_003781.4
p.R46H
c.137G>A
1 paper
NM_003781.4
p.R46delins
c.137_138delinsAT
1 paper
NM_003781.4
p.R46delins
c.136_138delinsTAT
1 paper
NM_003781.4
p.Y41C
c.122A>G
1 paper
NM_003781.4
p.V47V
c.141G>A
1 paper
NM_003781.4
p.N48D
c.142A>G
1 paper
NM_003781.4
p.V47_N48delins
c.141_142delinsAG
1 paper
NM_003781.4
p.N48N
c.144C>T
1 paper
NM_003781.4
p.L38fs
c.112_113fs
3 papers
NM_003781.4
p.S37G
c.109A>G
1 paper
NM_003781.4
p.L36_S37insFs
c.108_109insTC
1 paper
NM_003781.4
p.F52F
c.156C>T
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