Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.Q61*

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.Q61*
c.181C>T
Surrounding Variants
1 paper
NM_003781.4
p.Q61delins
c.181_182delinsTG
1 paper
NM_003781.4
p.D62G
c.185A>G
1 paper
NM_003781.4
p.H64Y
c.190C>T
1 paper
NM_003781.4
p.P57P
c.171G>A
1 paper
NM_003781.4
p.L67F
c.199C>T
1 paper
NM_003781.4
p.E54K
c.160G>A
1 paper
NM_003781.4
p.Y53_E54delins
c.159_160delinsCA
6 papers
NM_003781.4
p.R68*
c.202C>T
1 paper
NM_003781.4
p.R68_E69insT
c.202_206ins3
1 paper
NM_003781.4
p.R68fs
c.202_203fs
1 paper
NM_003781.4
p.F52F
c.156C>T
1 paper
NM_003781.4
p.H70Q
c.210T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."