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.P863S

c.2587C>T

Surrounding Variants

1 paper

NM_014568.3

p.W857C

c.2571G>C

1 paper

NM_014568.3

p.W857C

c.2571G>T

1 paper

NM_014568.3

p.Q915E

c.2743C>G

2 papers

NM_014568.3

p.D836N

c.2506G>A

1 paper

NM_014568.3

p.K790R

c.2369A>G

2 papers

NM_014568.3

p.R784*

c.2350C>T

1 paper

NM_014568.3

p.Q780*

c.2338C>T

1 paper

NM_014568.3

p.N729S

c.2186A>G

1 paper

NM_014568.3

p.E712D

c.2136A>C

1 paper

NM_014568.3

p.E712D

c.2136A>T

1 paper

NM_014568.3

p.L702L

c.2106C>T

1 paper

NM_014568.3

p.G697R

c.2089G>A