Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.L510delFs

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.L510delFs
c.1528_1529delAG
Surrounding Variants
1 paper
NM_001478.5
p.D511D
c.1533C>T
1 paper
NM_001478.5
p.D511E
c.1533C>G
1 paper
NM_001478.5
p.D511E
c.1533C>A
1 paper
NM_001478.5
p.Q514R
c.1541A>G
1 paper
NM_001478.5
p.M515I
c.1545G>T
1 paper
NM_001478.5
p.M515I
c.1545G>C
1 paper
NM_001478.5
p.M515I
c.1545G>A
8 papers
NM_001478.5
p.R505H
c.1514G>A
2 papers
NM_001478.5
p.A516V
c.1547C>T
2 papers
NM_001478.5
p.R505C
c.1513C>T
2 papers
NM_001478.5
p.R519W
c.1555C>T
4 papers
NM_001478.5
p.R519P
c.1556G>C
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