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

Selected Variant

1 paper

NM_004775.5

p.L74F

c.220C>T

Surrounding Variants

1 paper

NM_004775.5

p.N75K

c.225C>G

1 paper

NM_004775.5

p.N75K

c.225C>A

1 paper

NM_004775.5

p.N71K

c.213C>G

1 paper

NM_004775.5

p.N71K

c.213C>A

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.I60V

c.178A>G

1 paper

NM_004775.5

p.I51T

c.152T>C

1 paper

NM_004775.5

p.Y79D

c.235T>G

1 paper

NM_004775.5

p.V90I

c.268G>A

1 paper

NM_004775.5

p.P97L

c.290C>T

1 paper

NM_004775.5

p.P104L

c.311C>T