Varaico: Literature-Extracted Genetic Variants

GALNT3

180 papers

RefSeq Summary

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the fi...

Pfam Domains

Glycos_transf_2aa 188–374UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 505–627UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 3

HGNC Alias Symbols

GalNAc-T3; HHS; HFTC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

26 papers

NM_004482.4

p.R162*

c.484C>T

Surrounding Variants

12 papers

NM_004482.4

p.R162Q

c.485G>A

1 paper

NM_004482.4

p.L164H

c.491T>A

1 paper

NM_004482.4

p.E172fs

c.514_515fs

1 paper

NM_004482.4

p.S124Y

c.371C>A

2 papers

NM_004482.4

p.A123S

c.367G>T

1 paper

NM_004482.4

p.P121delFs

c.362delG

1 paper

NM_004482.4

p.D117H

c.349G>C

1 paper

NM_004482.4

p.R113H

c.338G>A

1 paper

NM_004482.4

p.L107delFs

c.320delA

1 paper

NM_004482.4

p.Q99insFs

c.296dupA

1 paper

NM_004482.4

p.Q99P

c.296A>C

1 paper

NM_004482.4

p.L98W

c.293T>G