Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.L14_A20delFs

B3GALT6

125 papers

RefSeq Summary

The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates contai...

Pfam Domains

Galactosyl_Taa 71–260UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 6

HGNC Alias Symbol

beta3GalT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080605.4
p.L14_A20delFs
c.42_60del19
Surrounding Variants
2 papers
NM_080605.4
p.R11W
c.31C>T
1 paper
NM_080605.4
p.R10W
c.28C>T
1 paper
NM_080605.4
p.R9L
c.26G>T
1 paper
NM_080605.4
p.A20G
c.59C>G
3 papers
NM_080605.4
p.R6Q
c.17G>A
9 papers
NM_080605.4
p.R6W
c.16C>T
1 paper
NM_080605.4
p.R5P
c.14G>C
1 paper
NM_080605.4
p.R5W
c.13C>T
1 paper
NM_080605.4
p.W8_A12ins1
c.22_36dup15
3 papers
NM_080605.4
p.L26P
c.77T>C
2 papers
NM_080605.4
p.M1T
c.2T>C
1 paper
NM_080605.4
p.M1R
c.2T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."