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.R759Splc

c.2276+37A>G

Surrounding Variants

1 paper

NM_001440.4

p.H751R

c.2252A>G

1 paper

NM_001440.4

p.D744Y

c.2230G>T

1 paper

NM_001440.4

p.E736Q

c.2206G>C

1 paper

NM_001440.4

p.R765W

c.2293C>T

1 paper

NM_001440.4

p.V769L

c.2305G>C

1 paper

NM_001440.4

p.V769L

c.2305G>T

1 paper

NM_001440.4

p.R774fs

c.2320_2321fs

1 paper

NM_001440.4

p.I780I

c.2340C>T

1 paper

NM_001440.4

p.L786F

c.2356C>T

1 paper

NM_001440.4

p.V798M

c.2392G>A