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

4 papers

NM_024642.5

p.V290F

c.868G>T

Surrounding Variants

1 paper

NM_024642.5

p.V290_R293del4

c.868_878del12

3 papers

NM_024642.5

p.T286M

c.857C>T

1 paper

NM_024642.5

p.E294K

c.880G>A

6 papers

NM_024642.5

p.R297W

c.889C>T

1 paper

NM_024642.5

p.W281*

c.843G>A

1 paper

NM_024642.5

p.W281*

c.842G>A

1 paper

NM_024642.5

p.D280N

c.838G>A

1 paper

NM_024642.5

p.G278V

c.833G>T

1 paper

NM_024642.5

p.V302I

c.904G>A

1 paper

NM_024642.5

p.G277G

c.831C>T

20 papers

NM_024642.5

p.D303N

c.907G>A

1 paper

NM_024642.5

p.G272R

c.814G>A