Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.L121insFs

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.L121insFs
c.362dupT
Surrounding Variants
1 paper
NM_080605.4
p.L122_P123ins0
c.365_367dupTGC
1 paper
NM_080605.4
p.L122del1
c.364_365delCTG
5 papers
NM_080605.4
p.D118delFs
c.353delA
7 papers
NM_080605.4
p.D118fs
c.352_353fs
1 paper
NM_080605.4
p.R115W
c.343C>T
1 paper
NM_080605.4
p.D127N
c.379G>A
2 papers
NM_080605.4
p.A114E
c.341C>A
1 paper
NM_080605.4
p.Y129S
c.386A>C
1 paper
NM_080605.4
p.Y129C
c.386A>G
1 paper
NM_080605.4
p.E130_T133insFs
c.390_397dup8
1 paper
NM_080605.4
p.E130_A134delFs
c.389_402del14
1 paper
NM_080605.4
p.R111W
c.331C>T
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