Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.R228G

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.R228G
c.682C>G
Surrounding Variants
7 papers
NM_001478.5
p.R228*
c.682C>T
1 paper
NM_001478.5
p.R228L
c.683G>T
1 paper
NM_001478.5
p.R228Q
c.683G>A
1 paper
NM_001478.5
p.N233S
c.698A>G
1 paper
NM_001478.5
p.Q221H
c.663A>T
1 paper
NM_001478.5
p.Q221H
c.663A>C
1 paper
NM_001478.5
p.Q215R
c.644A>G
1 paper
NM_001478.5
p.D214E
c.642C>G
1 paper
NM_001478.5
p.D214E
c.642C>A
1 paper
NM_001478.5
p.V238Splc
c.712+16G>A
1 paper
NM_001478.5
p.S210T
c.629G>C
1 paper
NM_001478.5
p.T207I
c.620C>T
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