Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT6

B3GNT6

41 papers

RefSeq Summary

The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is resp...

Pfam Domains

Galactosyl_Taa 131–327UCSCGalactosyltransferase

Gene Aliases

HGNC Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6

HGNC Alias Symbol

B3Gn-T6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
4 papers
NM_138706.5
p.A191T
c.571G>A
3 papers
NM_138706.5
p.L316fs
c.946_947fs
1 paper
NM_138706.5
p.A2A
c.6T>G
1 paper
NM_138706.5
p.R41M
c.122G>T
1 paper
NM_138706.5
p.P43S
c.127C>T
1 paper
NM_138706.5
p.V65I
c.193G>A
1 paper
NM_138706.5
p.S75_A78del0
c.223_234del12
1 paper
NM_138706.5
p.L93R
c.278T>G
1 paper
NM_138706.5
p.D106_A112del0
c.316_336del21
1 paper
NM_138706.5
p.C111Y
c.332G>A
1 paper
NM_138706.5
p.L119P
c.356T>C
1 paper
NM_138706.5
p.P127P
c.381T>A
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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."