Varaico: Literature-Extracted Genetic Variants

GALNT14

84 papers

RefSeq Summary

This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (...

Pfam Domains

Glycos_transf_2aa 114–295UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 420–547UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 14

HGNC Alias Symbols

GalNac-T10; FLJ12691; GalNac-T14

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

5 papers

NM_024572.4

p.R425*

c.1273C>T

3 papers

NM_024572.4

p.V9L

c.25G>C

3 papers

NM_024572.4

p.R268C

c.802C>T

3 papers

NM_024572.4

p.Q469K

c.1405C>A

2 papers

NM_024572.4

p.L21fs

c.61_62fs

2 papers

NM_024572.4

p.R132H

c.395G>A

2 papers

NM_024572.4

p.R137H

c.410G>A

2 papers

NM_024572.4

p.D157N

c.469G>A

2 papers

NM_024572.4

p.D158N

c.472G>A

2 papers

NM_024572.4

p.R315*

c.943C>T

2 papers

NM_024572.4

p.F382F

c.1146C>T

2 papers

NM_024572.4

p.E440G

c.1319A>G