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.V474I

c.1420G>A

Surrounding Variants

1 paper

NM_133642.5

p.S481delFs

c.1441delA

1 paper

NM_133642.5

p.D483Y

c.1447G>T

1 paper

NM_133642.5

p.D483G

c.1448A>G

1 paper

NM_133642.5

p.E464V

c.1391A>T

1 paper

NM_133642.5

p.R455H

c.1364G>A

1 paper

NM_133642.5

p.R455C

c.1363C>T

1 paper

NM_133642.5

p.R448Q

c.1343G>A

1 paper

NM_133642.5

p.C443Y

c.1328G>A