Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT6
Variant:p.L197F

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
Selected Variant
1 paper
NM_138706.5
p.L197F
c.589C>T
Surrounding Variants
1 paper
NM_138706.5
p.T198K
c.593C>A
1 paper
NM_138706.5
p.K200E
c.598A>G
1 paper
NM_138706.5
p.D192A
c.575A>C
4 papers
NM_138706.5
p.A191T
c.571G>A
1 paper
NM_138706.5
p.D184E
c.552C>A
1 paper
NM_138706.5
p.D184E
c.552C>G
1 paper
NM_138706.5
p.A179E
c.536C>A
1 paper
NM_138706.5
p.L219I
c.655C>A
1 paper
NM_138706.5
p.D223_R234del12
c.667_701del36
1 paper
NM_138706.5
p.D223N
c.667G>A
1 paper
NM_138706.5
p.V225M
c.673G>A
1 paper
NM_138706.5
p.P162fs
c.484_485fs
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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."