Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.F464L

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.F464L
c.1390T>C
Surrounding Variants
1 paper
NM_001478.5
p.F463L
c.1389C>G
1 paper
NM_001478.5
p.F463L
c.1389C>A
1 paper
NM_001478.5
p.F464L
c.1392C>G
1 paper
NM_001478.5
p.F464L
c.1392C>A
1 paper
NM_001478.5
p.F463L
c.1387T>C
1 paper
NM_001478.5
p.G467E
c.1400G>A
1 paper
NM_001478.5
p.L471F
c.1411C>T
2 papers
NM_001478.5
p.R472P
c.1415G>C
3 papers
NM_001478.5
p.S475F
c.1424C>T
1 paper
NM_001478.5
p.D478N
c.1432G>A
1 paper
NM_001478.5
p.V479I
c.1435G>A
1 paper
NM_001478.5
p.V480L
c.1438G>T
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