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

1 paper

NM_133642.5

p.M592I

c.1776G>T

Surrounding Variants

1 paper

NM_133642.5

p.M592I

c.1776G>C

1 paper

NM_133642.5

p.M592I

c.1776G>A

1 paper

NM_133642.5

p.A596V

c.1787C>T

1 paper

NM_133642.5

p.E598K

c.1792G>A

2 papers

NM_133642.5

p.M616I

c.1848G>T

2 papers

NM_133642.5

p.M616I

c.1848G>C

2 papers

NM_133642.5

p.M616I

c.1848G>A

1 paper

NM_133642.5

p.T631T

c.1893G>A

1 paper

NM_133642.5

p.H634H

c.1902C>T

1 paper

NM_133642.5

p.A645T

c.1933G>A

1 paper

NM_133642.5

p.R650Q

c.1949G>A

1 paper

NM_133642.5

p.E652A

c.1955A>C