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

6 papers

NM_001440.4

p.P318L

c.953C>T

Surrounding Variants

1 paper

NM_001440.4

p.V315V

c.945C>T

1 paper

NM_001440.4

p.M323V

c.967A>G

1 paper

NM_001440.4

p.I331delFs

c.991delA

1 paper

NM_001440.4

p.I331fs

c.991_992fs

6 papers

NM_001440.4

p.R339W

c.1015C>T

1 paper

NM_001440.4

p.A296delFs

c.887delC

1 paper

NM_001440.4

p.R295C

c.883C>T

1 paper

NM_001440.4

p.T293insFs

c.877_878insT

1 paper

NM_001440.4

p.N290N

c.870C>T

1 paper

NM_001440.4

p.I350T

c.1049T>C

1 paper

NM_001440.4

p.S352F

c.1055C>T

1 paper

NM_001440.4

p.S282L

c.845C>T