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

1 paper

NM_004482.4

p.Q99P

c.296A>C

Surrounding Variants

1 paper

NM_004482.4

p.Q99insFs

c.296dupA

1 paper

NM_004482.4

p.L98W

c.293T>G

1 paper

NM_004482.4

p.L107delFs

c.320delA

2 papers

NM_004482.4

p.R87_N89delFs

c.260_266del7

4 papers

NM_004482.4

p.R87fs

c.259_260fs

5 papers

NM_004482.4

p.P85delFs

c.254_255delAG

1 paper

NM_004482.4

p.R113H

c.338G>A

4 papers

NM_004482.4

p.P85fs

c.253_254fs

1 paper

NM_004482.4

p.A84insFs

c.250_251insAA

1 paper

NM_004482.4

p.D117H

c.349G>C

1 paper

NM_004482.4

p.P121delFs

c.362delG

1 paper

NM_004482.4

p.A76delFs

c.228delG