Varaico: Literature-Extracted Genetic Variants

GALNT5

67 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosyl...

Pfam Domains

Glycos_transf_2aa 499–682UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 810–932UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 5

HGNC Alias Symbol

GalNAc-T5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014568.3

p.P139H

c.416C>A

Surrounding Variants

1 paper

NM_014568.3

p.K161Q

c.481A>C

1 paper

NM_014568.3

p.Q162H

c.486A>C

1 paper

NM_014568.3

p.Q162H

c.486A>T

1 paper

NM_014568.3

p.T171I

c.512C>T

1 paper

NM_014568.3

p.V101F

c.301G>T

1 paper

NM_014568.3

p.T179S

c.535A>T

1 paper

NM_014568.3

p.T179S

c.536C>G

1 paper

NM_014568.3

p.Q180*

c.538C>T

1 paper

NM_014568.3

p.S185P

c.553T>C

1 paper

NM_014568.3

p.E89*

c.265G>T

1 paper

NM_014568.3

p.V191V

c.573C>T

1 paper

NM_014568.3

p.I66F

c.196A>T