Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.F439L

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.F439L
c.1317C>A
Surrounding Variants
1 paper
NM_001478.5
p.F439L
c.1317C>G
1 paper
NM_001478.5
p.F439C
c.1316T>G
4 papers
NM_001478.5
p.F439del1
c.1315_1316delGAA
1 paper
NM_001478.5
p.F439L
c.1315T>C
2 papers
NM_001478.5
p.F438L
c.1314C>G
2 papers
NM_001478.5
p.F438L
c.1314C>A
2 papers
NM_001478.5
p.F438L
c.1312T>C
4 papers
NM_001478.5
p.A441E
c.1322C>A
2 papers
NM_001478.5
p.N437K
c.1311C>G
2 papers
NM_001478.5
p.N437K
c.1311C>A
9 papers
NM_001478.5
p.D433A
c.1298A>C
1 paper
NM_001478.5
p.C429R
c.1285T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."