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.Y504H

c.1510T>C

Surrounding Variants

4 papers

NM_133642.5

p.E509K

c.1525G>A

1 paper

NM_133642.5

p.W495R

c.1483T>C

1 paper

NM_133642.5

p.W495R

c.1483T>A

1 paper

NM_133642.5

p.V549M

c.1645G>A

1 paper

NM_133642.5

p.K552E

c.1654A>G

1 paper

NM_133642.5

p.D563N

c.1687G>A

1 paper

NM_133642.5

p.D565N

c.1693G>A

1 paper

NM_133642.5

p.E574*

c.1720G>T