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

6 papers

NM_001440.4

p.Y670D

c.2008T>G

Surrounding Variants

2 papers

NM_001440.4

p.R672Q

c.2015G>A

1 paper

NM_001440.4

p.R660Q

c.1979G>A

11 papers

NM_001440.4

p.N657S

c.1970A>G

1 paper

NM_001440.4

p.V692V

c.2076C>T

1 paper

NM_001440.4

p.S646C

c.1937C>G

1 paper

NM_001440.4

p.V694A

c.2081T>C

1 paper

NM_001440.4

p.S703P

c.2107T>C

1 paper

NM_001440.4

p.L706V

c.2116C>G

1 paper

NM_001440.4

p.L706P

c.2117T>C

1 paper

NM_001440.4

p.G712C

c.2134G>T

1 paper

NM_001440.4

p.D620H

c.1858G>C

1 paper

NM_001440.4

p.D599N

c.1795G>A