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.R443C

c.1327C>T

Surrounding Variants

1 paper

NM_001122636.2

p.A435A

c.1305C>A

1 paper

NM_001122636.2

p.L434L

c.1302G>A

1 paper

NM_001122636.2

p.H494H

c.1482C>T

1 paper

NM_001122636.2

p.S498F

c.1493C>T

1 paper

NM_001122636.2

p.W404*

c.1212G>A

1 paper

NM_001122636.2

p.W404*

c.1211G>A

3 papers

NM_001122636.2

p.A400T

c.1198G>A

1 paper

NM_001122636.2

p.R399C

c.1195C>T

1 paper

NM_001122636.2

p.A397T

c.1189G>A

1 paper

NM_001122636.2

p.A393V

c.1178C>T

1 paper

NM_001122636.2

p.R380C

c.1138C>T

1 paper

NM_001122636.2

p.V375M

c.1123G>A