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

5 papers

NM_024642.5

p.Y396C

c.1187A>G

Surrounding Variants

3 papers

NM_024642.5

p.Y395*

c.1185C>A

3 papers

NM_024642.5

p.Y395*

c.1185C>G

1 paper

NM_024642.5

p.R398C

c.1192C>T

2 papers

NM_024642.5

p.R401C

c.1201C>T

1 paper

NM_024642.5

p.R401H

c.1202G>A

1 paper

NM_024642.5

p.R401R

c.1203T>G

1 paper

NM_024642.5

p.E390*

c.1168G>T

1 paper

NM_024642.5

p.R403H

c.1208G>A

1 paper

NM_024642.5

p.R403delFs

c.1209delC

1 paper

NM_024642.5

p.E385K

c.1153G>A

1 paper

NM_024642.5

p.A384_E385delFs

c.1152_1153delTG

3 papers

NM_024642.5

p.R382H

c.1145G>A