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

Selected Variant

2 papers

NM_024572.4

p.E440G

c.1319A>G

Surrounding Variants

1 paper

NM_024572.4

p.K445M

c.1334A>T

1 paper

NM_024572.4

p.L446L

c.1336T>C

1 paper

NM_024572.4

p.Q434K

c.1300C>A

5 papers

NM_024572.4

p.R425*

c.1273C>T

1 paper

NM_024572.4

p.K401N

c.1203G>T

1 paper

NM_024572.4

p.K401N

c.1203G>C

1 paper

NM_024572.4

p.K401Q

c.1201A>C

2 papers

NM_024572.4

p.F382F

c.1146C>T

1 paper

NM_024572.4

p.F376Y

c.1127T>A

1 paper

NM_024572.4

p.Y341C

c.1022A>G

1 paper

NM_024572.4

p.K338M

c.1013A>T

1 paper

NM_024572.4

p.V334I

c.1000G>A