Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.S401R

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.S401R
c.1203C>G
Surrounding Variants
1 paper
NM_001478.5
p.S401R
c.1203C>A
1 paper
NM_001478.5
p.V402L
c.1204G>T
1 paper
NM_001478.5
p.V402L
c.1204G>C
1 paper
NM_001478.5
p.V402M
c.1204G>A
1 paper
NM_001478.5
p.S401R
c.1201A>C
1 paper
NM_001478.5
p.P404S
c.1210C>T
2 papers
NM_001478.5
p.R397P
c.1190G>C
1 paper
NM_001478.5
p.R397W
c.1189C>T
1 paper
NM_001478.5
p.A406D
c.1217C>A
1 paper
NM_001478.5
p.T394A
c.1180A>G
1 paper
NM_001478.5
p.A393V
c.1178C>T
1 paper
NM_001478.5
p.F392_A393insA
c.1174_1178ins3
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