Varaico: Literature-Extracted Genetic Variants

LARGE1

77 papers

RefSeq Summary

This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthes...

Pfam Domains

Glyco_transf_8aa 140–387UCSCGlycosyl transferase family 8

Glyco_transf_49aa 473–540UCSCGlycosyl-transferase for dystroglycan

Glyco_transf_49aa 520–743UCSCGlycosyl-transferase for dystroglycan

Gene Aliases

HGNC Name

LARGE xylosyl- and glucuronyltransferase 1

HGNC Alias Symbol

KIAA0609

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_133642.5

p.A145A

c.435C>T

Surrounding Variants

1 paper

NM_133642.5

p.G146G

c.438A>G

1 paper

NM_133642.5

p.N148D

c.442A>G

1 paper

NM_133642.5

p.S159S

c.477C>A

1 paper

NM_133642.5

p.V160A

c.479T>C