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.G526*

c.1576G>T

Surrounding Variants

1 paper

NM_004482.4

p.G527del1

c.1579_1581delGCC

5 papers

NM_004482.4

p.K528_P529insFs

c.1584_1585insA

3 papers

NM_004482.4

p.P529fs

c.1585_1586fs

1 paper

NM_004482.4

p.D519H

c.1555G>C

1 paper

NM_004482.4

p.G513G

c.1539T>G

1 paper

NM_004482.4

p.N541S

c.1622A>G

1 paper

NM_004482.4

p.K510*

c.1528A>T

11 papers

NM_004482.4

p.Q542_Y543Splc

c.1626+1G>A

1 paper

NM_004482.4

p.Q542_Y543Splc

c.1626+51G>A

10 papers

NM_004482.4

p.Y508_I509Splc

c.1524+5G>A

23 papers

NM_004482.4

p.Y508_I509Splc

c.1524+1G>A

14 papers

NM_004482.4

p.W487*

c.1461G>A