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.P344P

c.1032C>T

Surrounding Variants

1 paper

NM_001122636.2

p.R333_P344del0

c.998_1030del33

1 paper

NM_001122636.2

p.V348M

c.1042G>A

1 paper

NM_001122636.2

p.G351S

c.1051G>A

1 paper

NM_001122636.2

p.M346_V354del9

c.1036_1061del27

2 papers

NM_001122636.2

p.R333H

c.998G>A

1 paper

NM_001122636.2

p.V330I

c.988G>A

1 paper

NM_001122636.2

p.G326S

c.976G>A

1 paper

NM_001122636.2

p.R359_V360Splc

c.1077+234A>G

1 paper

NM_001122636.2

p.P305P

c.915C>T

1 paper

NM_001122636.2

p.L298F

c.892C>T

1 paper

NM_001122636.2

p.D275E

c.825C>G

1 paper

NM_001122636.2

p.D275E

c.825C>A