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

3 papers

NM_014568.3

p.L692F

c.2074C>T

Surrounding Variants

1 paper

NM_014568.3

p.Y688H

c.2062T>C

1 paper

NM_014568.3

p.G697R

c.2089G>A

1 paper

NM_014568.3

p.G697R

c.2089G>C

1 paper

NM_014568.3

p.L702L

c.2106C>T

1 paper

NM_014568.3

p.K679R

c.2036A>G

5 papers

NM_014568.3

p.D678A

c.2033A>C

1 paper

NM_014568.3

p.D678G

c.2033A>G

1 paper

NM_014568.3

p.G672G

c.2016T>G

1 paper

NM_014568.3

p.A671Fs

c.2013delinsTGGGGGFs

1 paper

NM_014568.3

p.R666Splc

c.1998-1G>A

1 paper

NM_014568.3

p.E712D

c.2136A>C

1 paper

NM_014568.3

p.E712D

c.2136A>T