Varaico: Literature-Extracted Genetic Variants

GALNT9

61 papers

RefSeq Summary

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in...

Pfam Domains

Glycos_transf_2aa 154–340UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 464–592UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 9

HGNC Alias Symbol

GALNAC-T9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001122636.2

p.W254R

c.760T>C

Surrounding Variants

1 paper

NM_001122636.2

p.V241I

c.721G>A

1 paper

NM_001122636.2

p.T237T

c.711C>T

1 paper

NM_001122636.2

p.R229W

c.685C>T

1 paper

NM_001122636.2

p.R227H

c.680G>A

1 paper

NM_001122636.2

p.R227C

c.679C>T

2 papers

NM_001122636.2

p.R221W

c.661C>T

1 paper

NM_001122636.2

p.T178T

c.534G>A

1 paper

NM_001122636.2

p.L150P

c.449T>C

1 paper

NM_001122636.2

p.A255T

c.763G>A

1 paper

NM_001122636.2

p.P257P

c.771C>T

1 paper

NM_001122636.2

p.L271M

c.811C>A

1 paper

NM_001122636.2

p.D275N

c.823G>A