Varaico: Literature-Extracted Genetic Variants

B4GALT6

39 papers

RefSeq Summary

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate ...

Pfam Domains

Glyco_transf_7Naa 108–243UCSCN-terminal region of glycosyl transferase group 7

Glyco_transf_7Caa 247–324UCSCN-terminal domain of galactosyltransferase

Gene Aliases

HGNC Name

beta-1,4-galactosyltransferase 6

HGNC Alias Symbol

beta4GalT-VI

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

1 paper

NM_004775.5

p.M7V

c.19A>G

1 paper

NM_004775.5

p.R9W

c.25C>T

1 paper

NM_004775.5

p.N12S

c.35A>G

1 paper

NM_004775.5

p.L16L

c.48C>T

1 paper

NM_004775.5

p.S23Y

c.68C>A

1 paper

NM_004775.5

p.I32V

c.94A>G

1 paper

NM_004775.5

p.A35G

c.104C>G

1 paper

NM_004775.5

p.I51T

c.152T>C

1 paper

NM_004775.5

p.I60V

c.178A>G

1 paper

NM_004775.5

p.Y67*

c.201C>G

1 paper

NM_004775.5

p.Y67*

c.201C>A

1 paper

NM_004775.5

p.N71K

c.213C>G