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.R15insFs

c.44_45insA

Surrounding Variants

1 paper

NM_024642.5

p.E19ins3

c.56_57ins9

1 paper

NM_024642.5

p.L21Q

c.62T>A

1 paper

NM_024642.5

p.R9G

c.25C>G

1 paper

NM_024642.5

p.L25V

c.73C>G

1 paper

NM_024642.5

p.G3E

c.8G>A

3 papers

NM_024642.5

p.W2*

c.6G>A

1 paper

NM_024642.5

p.W2C

c.6G>T

2 papers

NM_024642.5

p.W2*

c.5G>A

5 papers

NM_024642.5

p.M1I

c.3G>A

4 papers

NM_024642.5

p.M1I

c.3G>C

4 papers

NM_024642.5

p.M1I

c.3G>T

1 paper

NM_024642.5

p.R38Q

c.113G>A