Varaico: Literature-Extracted Genetic Variants

GALNT10

58 papers

RefSeq Summary

This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer ...

Pfam Domains

Glycos_transf_2aa 148–333UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 459–587UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 10

HGNC Alias Symbol

GalNAc-T10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_198321.4

p.A323T

c.967G>A

Surrounding Variants

1 paper

NM_198321.4

p.E348Q

c.1042G>C

1 paper

NM_198321.4

p.P301L

c.902C>T

1 paper

NM_198321.4

p.R296Q

c.887G>A

1 paper

NM_198321.4

p.Y293Y

c.879C>T

1 paper

NM_198321.4

p.P264R

c.791C>G

1 paper

NM_198321.4

p.V244A

c.731T>C

1 paper

NM_198321.4

p.N243S

c.728A>G

1 paper

NM_198321.4

p.A228S

c.682G>T

1 paper

NM_198321.4

p.R214fs

c.640_641fs

1 paper

NM_198321.4

p.R214delFs

c.641delG