Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.A114A

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.A114A
c.342C>T
Surrounding Variants
1 paper
NM_001478.5
p.A114P
c.340G>C
1 paper
NM_001478.5
p.S115F
c.344C>T
1 paper
NM_001478.5
p.A113A
c.339T>A
1 paper
NM_001478.5
p.R112insFs
c.334_335dupAG
1 paper
NM_001478.5
p.R112S
c.336G>C
1 paper
NM_001478.5
p.E119D
c.357G>T
1 paper
NM_001478.5
p.E119D
c.357G>C
9 papers
NM_001478.5
p.Q120*
c.358C>T
1 paper
NM_001478.5
p.A109E
c.326C>A
1 paper
NM_001478.5
p.P108L
c.323C>T
1 paper
NM_001478.5
p.A105S
c.313G>T
1 paper
NM_001478.5
p.D101_L102del2
c.301_305del6
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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."