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.K214K

c.642A>G

Surrounding Variants

2 papers

NM_133642.5

p.N213N

c.639T>C

1 paper

NM_133642.5

p.K205_S206Splc

c.616-7T>G

1 paper

NM_133642.5

p.T230T

c.690T>A

1 paper

NM_133642.5

p.L231L

c.693T>G

1 paper

NM_133642.5

p.A233A

c.699C>G

1 paper

NM_133642.5

p.D242N

c.724G>A

1 paper

NM_133642.5

p.D244N

c.730G>A