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.Q38*

c.112C>T

Surrounding Variants

1 paper

NM_004482.4

p.M52I

c.156G>T

1 paper

NM_004482.4

p.M52I

c.156G>C

1 paper

NM_004482.4

p.M52I

c.156G>A

1 paper

NM_004482.4

p.R54S

c.162G>C

4 papers

NM_004482.4

p.R14_F20del0

c.41_58del18

6 papers

NM_004482.4

p.R14_K19delFs

c.42_57del16

1 paper

NM_004482.4

p.K19R

c.56A>G

5 papers

NM_004482.4

p.S42_K57del16

c.124_170del48

1 paper

NM_004482.4

p.R14S

c.42A>T

1 paper

NM_004482.4

p.R14S

c.42A>C

1 paper

NM_004482.4

p.R14I

c.41G>T

3 papers

NM_004482.4

p.R14fs

c.40_41fs