Varaico: Literature-Extracted Genetic Variants

EXTL3

120 papers

RefSeq Summary

This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction ...

Pfam Domains

Exostosin_GT47aa 186–500UCSCExostosin GT47 domain

Glyco_transf_64aa 663–904UCSCGlycosyl transferase family 64 domain

Gene Aliases

HGNC Name

exostosin like glycosyltransferase 3

HGNC Alias Symbols

botv; REGR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001440.4

p.H78H

c.234C>T

Surrounding Variants

1 paper

NM_001440.4

p.V76delFs

c.227delT

1 paper

NM_001440.4

p.L82M

c.244C>A

1 paper

NM_001440.4

p.L82insFs

c.244_245insG

1 paper

NM_001440.4

p.C83insFs

c.247_248insC

1 paper

NM_001440.4

p.R84C

c.250C>T

1 paper

NM_001440.4

p.R86Q

c.257G>A

1 paper

NM_001440.4

p.G70_N71del2

c.208_212del6

1 paper

NM_001440.4

p.V89A

c.266T>C

1 paper

NM_001440.4

p.S90N

c.269G>A

1 paper

NM_001440.4

p.L94L

c.280C>T

1 paper

NM_001440.4

p.A57T

c.169G>A

1 paper

NM_001440.4

p.T52N

c.155C>A