Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT4
Variant:p.H148L

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.H148L
c.443A>T
Surrounding Variants
1 paper
NM_178537.5
p.F146L
c.438C>A
1 paper
NM_178537.5
p.F146L
c.438C>G
1 paper
NM_178537.5
p.F146L
c.436T>C
1 paper
NM_178537.5
p.K154T
c.461A>C
1 paper
NM_178537.5
p.S159Y
c.476C>A
1 paper
NM_178537.5
p.F172F
c.516C>T
1 paper
NM_178537.5
p.E116_Y117Splc
c.348+3G>T
1 paper
NM_178537.5
p.G179Splc
c.535+28G>A
1 paper
NM_178537.5
p.R114P
c.341G>C
1 paper
NM_178537.5
p.A99fs
c.295_296fs
2 papers
NM_178537.5
p.A99fs
c.295_296fs
1 paper
NM_178537.5
p.G98G
c.294G>C
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