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.V20L

c.58G>C

Surrounding Variants

1 paper

NM_024572.4

p.V20L

c.58G>T

2 papers

NM_024572.4

p.L21fs

c.61_62fs

1 paper

NM_024572.4

p.L22delFs

c.65delA

3 papers

NM_024572.4

p.V9L

c.25G>C

1 paper

NM_024572.4

p.R7Q

c.20G>A

1 paper

NM_024572.4

p.V33L

c.97G>T

1 paper

NM_024572.4

p.V33L

c.97G>C

1 paper

NM_024572.4

p.P37S

c.109C>T

1 paper

NM_024572.4

p.R3C

c.7C>T

1 paper

NM_024572.4

p.R2W

c.4C>T

1 paper

NM_024572.4

p.P42S

c.124C>T