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.G88C

c.262G>T

Surrounding Variants

1 paper

NM_024642.5

p.L86P

c.257T>C

1 paper

NM_024642.5

p.V82fs

c.244_245fs

1 paper

NM_024642.5

p.G79G

c.237C>T

1 paper

NM_024642.5

p.S97_V98delFs

c.290_293del4

1 paper

NM_024642.5

p.E80_A81insFs

c.239_243dup5

3 papers

NM_024642.5

p.H101Q

c.303C>A

3 papers

NM_024642.5

p.H101Q

c.303C>G

2 papers

NM_024642.5

p.I103I

c.309T>A

1 paper

NM_024642.5

p.A72S

c.214G>T

1 paper

NM_024642.5

p.V64I

c.190G>A

1 paper

NM_024642.5

p.R116C

c.346C>T

4 papers

NM_024642.5

p.E119V

c.356A>T