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.R513G

c.1537C>G

Surrounding Variants

8 papers

NM_001440.4

p.R513C

c.1537C>T

1 paper

NM_001440.4

p.D502N

c.1504G>A

5 papers

NM_001440.4

p.V490delFs

c.1469delT

1 paper

NM_001440.4

p.I538V

c.1612A>G

1 paper

NM_001440.4

p.I540_P541insT

c.1618_1622ins3

1 paper

NM_001440.4

p.I540I

c.1620C>A

1 paper

NM_001440.4

p.I540M

c.1620C>G

1 paper

NM_001440.4

p.A550V

c.1649C>T

1 paper

NM_001440.4

p.Y472*

c.1416C>A

1 paper

NM_001440.4

p.Y472*

c.1416C>G

1 paper

NM_001440.4

p.H555L

c.1664A>T

1 paper

NM_001440.4

p.E466K

c.1396G>A