Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT4
Variant:p.V830Splc

B4GALNT4

92 papers

Pfam Domains

CHGNaa 701–1030UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 4

HGNC Alias Symbols

FLJ25045; NGalNAc-T1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178537.5
p.V830Splc
c.2488+15C>A
Surrounding Variants
1 paper
NM_178537.5
p.R819H
c.2456G>A
1 paper
NM_178537.5
p.W818R
c.2452T>A
1 paper
NM_178537.5
p.W818R
c.2452T>C
1 paper
NM_178537.5
p.D805G
c.2414A>G
2 papers
NM_178537.5
p.E795E
c.2385A>G
1 paper
NM_178537.5
p.G787G
c.2361G>A
1 paper
NM_178537.5
p.Y776Y
c.2328C>T
1 paper
NM_178537.5
p.Y776S
c.2327A>C
1 paper
NM_178537.5
p.A842S
c.2524G>T
1 paper
NM_178537.5
p.R850C
c.2548C>T
1 paper
NM_178537.5
p.G852R
c.2554G>A
1 paper
NM_178537.5
p.G852R
c.2554G>C
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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."