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.R440H

c.1319G>A

Surrounding Variants

3 papers

NM_001440.4

p.R440C

c.1318C>T

2 papers

NM_001440.4

p.V442L

c.1324G>C

1 paper

NM_001440.4

p.T435T

c.1305C>A

1 paper

NM_001440.4

p.R450W

c.1348C>T

1 paper

NM_001440.4

p.A454A

c.1362C>T

1 paper

NM_001440.4

p.R421_L422insFs

c.1263_1264insAT

11 papers

NM_001440.4

p.P461L

c.1382C>T

1 paper

NM_001440.4

p.E419K

c.1255G>A

1 paper

NM_001440.4

p.R418Q

c.1253G>A

1 paper

NM_001440.4

p.V463M

c.1387G>A

1 paper

NM_001440.4

p.L464P

c.1391T>C

1 paper

NM_001440.4

p.E466K

c.1396G>A