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.Q368insFs

c.1102_1103insT

Surrounding Variants

1 paper

NM_133642.5

p.Q368*

c.1102C>T

1 paper

NM_133642.5

p.Y350*

c.1050C>G

1 paper

NM_133642.5

p.Y350*

c.1050C>A

1 paper

NM_133642.5

p.A340A

c.1020C>G

1 paper

NM_133642.5

p.D336D

c.1008T>C

4 papers

NM_133642.5

p.S331F

c.992C>T

1 paper

NM_133642.5

p.E321K

c.961G>A

1 paper

NM_133642.5

p.T319A

c.955A>G

1 paper

NM_133642.5

p.W312*

c.935G>A

1 paper

NM_133642.5

p.G298Splc

c.893-17C>G