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.L263L

c.787C>T

Surrounding Variants

1 paper

NM_001440.4

p.L256M

c.766C>A

1 paper

NM_001440.4

p.V274I

c.820G>A

1 paper

NM_001440.4

p.V250G

c.749T>G

1 paper

NM_001440.4

p.P248insFs

c.742_743insTT

1 paper

NM_001440.4

p.R280S

c.838C>A

2 papers

NM_001440.4

p.R280G

c.838C>G

1 paper

NM_001440.4

p.R280C

c.838C>T

1 paper

NM_001440.4

p.R280H

c.839G>A

1 paper

NM_001440.4

p.S282L

c.845C>T

1 paper

NM_001440.4

p.G243R

c.727G>A

1 paper

NM_001440.4

p.G243R

c.727G>C

1 paper

NM_001440.4

p.N290N

c.870C>T