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.R57_E62delFs

c.171_184del14

Surrounding Variants

1 paper

NM_024642.5

p.P56_R57ins9

c.166_170ins27

1 paper

NM_024642.5

p.P52L

c.155C>T

1 paper

NM_024642.5

p.P50T

c.148C>A

1 paper

NM_024642.5

p.V64I

c.190G>A

5 papers

NM_024642.5

p.G46R

c.136G>A

5 papers

NM_024642.5

p.G46R

c.136G>C

1 paper

NM_024642.5

p.G44V

c.131G>T

1 paper

NM_024642.5

p.A43fs

c.127_128fs

1 paper

NM_024642.5

p.A43_E49delFs

c.127_146del20

1 paper

NM_024642.5

p.A72S

c.214G>T

1 paper

NM_024642.5

p.R38Q

c.113G>A

1 paper

NM_024642.5

p.E80_A81insFs

c.239_243dup5