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

1–12 of 70 variants

3 papers

NM_001122636.2

p.A400T

c.1198G>A

2 papers

NM_001122636.2

p.R221W

c.661C>T

2 papers

NM_001122636.2

p.R333H

c.998G>A

1 paper

NM_001122636.2

p.R8*

c.22C>T

1 paper

NM_001122636.2

p.R8Q

c.23G>A

1 paper

NM_001122636.2

p.L23P

c.68T>C

1 paper

NM_001122636.2

p.V26A

c.77T>C

1 paper

NM_001122636.2

p.R33C

c.97C>T

1 paper

NM_001122636.2

p.A52D

c.155C>A

1 paper

NM_001122636.2

p.L57L

c.169C>T

1 paper

NM_001122636.2

p.G58delFs

c.174delC

1 paper

NM_001122636.2

p.R60C

c.178C>T