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.D229N

c.685G>A

Surrounding Variants

1 paper

NM_024572.4

p.D234N

c.700G>A

1 paper

NM_024572.4

p.T237N

c.710C>A

1 paper

NM_024572.4

p.D250D

c.750C>T

3 papers

NM_024572.4

p.R268C

c.802C>T

1 paper

NM_024572.4

p.W305C

c.915G>T

1 paper

NM_024572.4

p.W305C

c.915G>C

1 paper

NM_024572.4

p.R215G

c.643A>G

1 paper

NM_024572.4

p.E203A

c.608A>C

1 paper

NM_024572.4

p.D199A

c.596A>C

1 paper

NM_024572.4

p.T193_L195del3

c.577_584del9

1 paper

NM_024572.4

p.D188_I189del1

c.564_566delATG

1 paper

NM_024572.4

p.I189I

c.567C>T