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

1 paper

NM_024572.4

p.D199A

c.596A>C

Surrounding Variants

1 paper

NM_024572.4

p.T193_L195del3

c.577_584del9

1 paper

NM_024572.4

p.E203A

c.608A>C

1 paper

NM_024572.4

p.D188_I189del1

c.564_566delATG

1 paper

NM_024572.4

p.I189I

c.567C>T

1 paper

NM_024572.4

p.R215G

c.643A>G

1 paper

NM_024572.4

p.N174S

c.521A>G

1 paper

NM_024572.4

p.N173K

c.519T>G

1 paper

NM_024572.4

p.N173K

c.519T>A

1 paper

NM_024572.4

p.R172C

c.514C>T

1 paper

NM_024572.4

p.K164K

c.492G>A

2 papers

NM_024572.4

p.D158N

c.472G>A

2 papers

NM_024572.4

p.D157N

c.469G>A