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

1–12 of 68 variants

5 papers

NM_014568.3

p.D678A

c.2033A>C

4 papers

NM_014568.3

p.V630A

c.1889T>C

3 papers

NM_014568.3

p.E507D

c.1521A>C

3 papers

NM_014568.3

p.E507D

c.1521A>T

3 papers

NM_014568.3

p.L692F

c.2074C>T

2 papers

NM_014568.3

p.V44I

c.130G>A

2 papers

NM_014568.3

p.Q489H

c.1467G>C

2 papers

NM_014568.3

p.Q489H

c.1467G>T

2 papers

NM_014568.3

p.L490P

c.1469T>C

2 papers

NM_014568.3

p.R784*

c.2350C>T

2 papers

NM_014568.3

p.D836N

c.2506G>A

1 paper

NM_014568.3

p.M1I

c.3G>A