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.R418Q

c.1253G>A

Surrounding Variants

1 paper

NM_001440.4

p.E419K

c.1255G>A

1 paper

NM_001440.4

p.R421_L422insFs

c.1263_1264insAT

1 paper

NM_001440.4

p.P409P

c.1227G>A

1 paper

NM_001440.4

p.S407G

c.1219A>G

1 paper

NM_001440.4

p.P404L

c.1211C>T

1 paper

NM_001440.4

p.T435T

c.1305C>A

3 papers

NM_001440.4

p.R440C

c.1318C>T

1 paper

NM_001440.4

p.R440H

c.1319G>A

2 papers

NM_001440.4

p.V442L

c.1324G>C

1 paper

NM_001440.4

p.Q393E

c.1177C>G

1 paper

NM_001440.4

p.Q393*

c.1177C>T

1 paper

NM_001440.4

p.R450W

c.1348C>T