Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.N79S

B4GALNT1

123 papers

RefSeq Summary

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of Ga...

Pfam Domains

Glycos_transf_2aa 280–450UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 1

HGNC Previous Symbols

GALGT; SPG26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001478.5
p.N79S
c.236A>G
Surrounding Variants
1 paper
NM_001478.5
p.C80S
c.238T>A
1 paper
NM_001478.5
p.C80S
c.239G>C
1 paper
NM_001478.5
p.C82S
c.244T>A
1 paper
NM_001478.5
p.C82S
c.245G>C
1 paper
NM_001478.5
p.C82Y
c.245G>A
1 paper
NM_001478.5
p.S84C
c.251C>G
2 papers
NM_001478.5
p.S85I
c.254G>T
1 paper
NM_001478.5
p.G73Splc
c.219-1G>C
1 paper
NM_001478.5
p.G73R
c.217G>C
1 paper
NM_001478.5
p.G73R
c.217G>A
1 paper
NM_001478.5
p.G86W
c.256G>T
1 paper
NM_001478.5
p.G86R
c.256G>C
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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."