Varaico: Literature-Extracted Genetic Variants

GALNT12

144 papers

RefSeq Summary

This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threon...

Pfam Domains

Glycos_transf_2aa 139–322UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 445–574UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 12

HGNC Alias Symbol

GalNAc-T12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024642.5

p.A188V

c.563C>T

Surrounding Variants

5 papers

NM_024642.5

p.N189S

c.566A>G

1 paper

NM_024642.5

p.E190V

c.569A>T

1 paper

NM_024642.5

p.R186H

c.557G>A

1 paper

NM_024642.5

p.K184M

c.551A>T

1 paper

NM_024642.5

p.S192L

c.575C>T

1 paper

NM_024642.5

p.L183insFs

c.547dupC

1 paper

NM_024642.5

p.L194L

c.582G>T

1 paper

NM_024642.5

p.V197E

c.590T>A

1 paper

NM_024642.5

p.I200delFs

c.599_600delTC

1 paper

NM_024642.5

p.A202T

c.604G>A

1 paper

NM_024642.5

p.N203S

c.608A>G

2 papers

NM_024642.5

p.K204M

c.611A>T