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

1–12 of 92 variants

4 papers

NM_133642.5

p.S331F

c.992C>T

4 papers

NM_133642.5

p.E509K

c.1525G>A

4 papers

NM_133642.5

p.R665H

c.1994G>A

2 papers

NM_133642.5

p.A145A

c.435C>T

2 papers

NM_133642.5

p.N213N

c.639T>C

2 papers

NM_133642.5

p.K214K

c.642A>G

2 papers

NM_133642.5

p.W282*

c.845G>A

2 papers

NM_133642.5

p.W282*

c.846G>A

2 papers

NM_133642.5

p.V474I

c.1420G>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