Varaico: Literature-Extracted Genetic Variants

Gene:B3GNT6
Variant:p.V266L

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.V266L
c.796G>T
Surrounding Variants
1 paper
NM_138706.5
p.V266L
c.796G>C
1 paper
NM_138706.5
p.P268_A275delFs
c.803_824del22
1 paper
NM_138706.5
p.P268fs
c.802_803fs
1 paper
NM_138706.5
p.G282S
c.844G>A
1 paper
NM_138706.5
p.H244R
c.731A>G
1 paper
NM_138706.5
p.Q239R
c.716A>G
1 paper
NM_138706.5
p.R300C
c.898C>T
1 paper
NM_138706.5
p.H301R
c.902A>G
1 paper
NM_138706.5
p.V225M
c.673G>A
1 paper
NM_138706.5
p.D223N
c.667G>A
1 paper
NM_138706.5
p.D223_R234del12
c.667_701del36
1 paper
NM_138706.5
p.L219I
c.655C>A
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