Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT4
Variant:p.V180A

B3GALT4

28 papers

RefSeq Summary

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor sub...

Pfam Domains

Galactosyl_Taa 85–309UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 4

HGNC Alias Symbols

beta3Gal-T4; GalT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003782.4
p.V180A
c.539T>C
Surrounding Variants
1 paper
NM_003782.4
p.R192Q
c.575G>A
1 paper
NM_003782.4
p.G193V
c.578G>T
1 paper
NM_003782.4
p.E162K
c.484G>A
1 paper
NM_003782.4
p.N149K
c.447C>A
1 paper
NM_003782.4
p.N149K
c.447C>G
1 paper
NM_003782.4
p.Q211E
c.631C>G
2 papers
NM_003782.4
p.W232R
c.694T>A
2 papers
NM_003782.4
p.W232R
c.694T>C
1 paper
NM_003782.4
p.V120M
c.358G>A
1 paper
NM_003782.4
p.G242fs
c.724_725fs
1 paper
NM_003782.4
p.T79A
c.235A>G
1 paper
NM_003782.4
p.L303L
c.909C>T
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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."