Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.G333S

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.G333S
c.997G>A
Surrounding Variants
2 papers
NM_001478.5
p.K334N
c.1002G>T
2 papers
NM_001478.5
p.K334N
c.1002G>C
1 paper
NM_001478.5
p.P331S
c.991C>T
2 papers
NM_001478.5
p.K334_G335Splc
c.1002+2T>G
1 paper
NM_001478.5
p.K334_G335Splc
c.1002+2T>A
1 paper
NM_001478.5
p.M330T
c.989T>C
1 paper
NM_001478.5
p.M330V
c.988A>G
1 paper
NM_001478.5
p.G322fs
c.964_965fs
1 paper
NM_001478.5
p.G322delFs
c.965delC
1 paper
NM_001478.5
p.S321N
c.962G>A
1 paper
NM_001478.5
p.V320I
c.958G>A
2 papers
NM_001478.5
p.D315N
c.943G>A
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