Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.D315N

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
2 papers
NM_001478.5
p.D315N
c.943G>A
Surrounding Variants
1 paper
NM_001478.5
p.D313A
c.938A>C
4 papers
NM_001478.5
p.D313N
c.937G>A
1 paper
NM_001478.5
p.V320I
c.958G>A
3 papers
NM_001478.5
p.V306_V308ins1
c.917_922dup6
1 paper
NM_001478.5
p.S321N
c.962G>A
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.T305T
c.915G>A
1 paper
NM_001478.5
p.T305M
c.914C>T
1 paper
NM_001478.5
p.R301H
c.902G>A
1 paper
NM_001478.5
p.R300H
c.899G>A
12 papers
NM_001478.5
p.R300C
c.898C>T
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