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.P357T

c.1069C>A

Surrounding Variants

1 paper

NM_024642.5

p.H356Y

c.1066C>T

1 paper

NM_024642.5

p.H356delFs

c.1067_1068delAC

1 paper

NM_024642.5

p.G362G

c.1086C>T

1 paper

NM_024642.5

p.H363D

c.1087C>G

1 paper

NM_024642.5

p.G350D

c.1049G>A

1 paper

NM_024642.5

p.P366R

c.1097C>G

1 paper

NM_024642.5

p.R345_I346Splc

c.1036-4G>A

3 papers

NM_024642.5

p.R373H

c.1118G>A

1 paper

NM_024642.5

p.N379H

c.1135A>C

1 paper

NM_024642.5

p.R382G

c.1144C>G

3 papers

NM_024642.5

p.R382H

c.1145G>A

1 paper

NM_024642.5

p.A384_E385delFs

c.1152_1153delTG