Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT2
Variant:p.G129G

B3GALT2

21 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

B3GALT2_Naa 75–154UCSCBeta-1,3-galactosyltransferase 2 N-terminus
Galactosyl_Taa 165–359UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 2

HGNC Alias Symbol

beta3Gal-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003783.3
p.G129G
c.387A>G
Surrounding Variants
1 paper
NM_003783.3
p.Y123D
c.367T>G
1 paper
NM_003783.3
p.Y138F
c.413A>T
1 paper
NM_003783.3
p.K149N
c.447A>T
1 paper
NM_003783.3
p.K149N
c.447A>C
1 paper
NM_003783.3
p.A169D
c.506C>A
1 paper
NM_003783.3
p.I170T
c.509T>C
1 paper
NM_003783.3
p.W83*
c.249G>A
1 paper
NM_003783.3
p.W83*
c.248G>A
1 paper
NM_003783.3
p.R80Q
c.239G>A
1 paper
NM_003783.3
p.Q184K
c.550C>A
1 paper
NM_003783.3
p.R68W
c.202C>T
1 paper
NM_003783.3
p.L193_K196delFs
c.577_586del10
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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."