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

2 papers

NM_001440.4

p.D164H

c.490G>C

Surrounding Variants

1 paper

NM_001440.4

p.E162delFs

c.484delG

1 paper

NM_001440.4

p.L155L

c.463C>T

1 paper

NM_001440.4

p.R175G

c.523C>G

1 paper

NM_001440.4

p.R175Q

c.524G>A

1 paper

NM_001440.4

p.H180_N181insFs

c.540_541insT

1 paper

NM_001440.4

p.P195Q

c.584C>A

1 paper

NM_001440.4

p.Y199C

c.596A>G

1 paper

NM_001440.4

p.Q126K

c.376C>A

1 paper

NM_001440.4

p.K125*

c.373A>T

1 paper

NM_001440.4

p.N123N

c.369C>T

1 paper

NM_001440.4

p.D211insFs

c.631_632insC

1 paper

NM_001440.4

p.F218delFs

c.652delT