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

1–12 of 159 variants

20 papers

NM_024642.5

p.D303N

c.907G>A

7 papers

NM_024642.5

p.D261N

c.781G>A

6 papers

NM_024642.5

p.P240L

c.719C>T

6 papers

NM_024642.5

p.R297W

c.889C>T

5 papers

NM_024642.5

p.M1I

c.3G>A

5 papers

NM_024642.5

p.G46R

c.136G>A

5 papers

NM_024642.5

p.G46R

c.136G>C

5 papers

NM_024642.5

p.N189S

c.566A>G

5 papers

NM_024642.5

p.Y396C

c.1187A>G

4 papers

NM_024642.5

p.M1I

c.3G>C

4 papers

NM_024642.5

p.M1I

c.3G>T

4 papers

NM_024642.5

p.E119V

c.356A>T