Varaico: Literature-Extracted Genetic Variants

GALNT17

79 papers

RefSeq Summary

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by ...

Pfam Domains

Glycos_transf_2aa 155–341UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 465–591UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase 17

HGNC Previous Symbol

WBSCR17

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

3 papers

NM_022479.3

p.R375Q

c.1124G>A

2 papers

NM_022479.3

p.R94W

c.280C>T

2 papers

NM_022479.3

p.I379T

c.1136T>C

1 paper

NM_022479.3

p.S3_L4insFs

c.9_10insG

1 paper

NM_022479.3

p.F21F

c.63C>T

1 paper

NM_022479.3

p.S35R

c.103A>C

1 paper

NM_022479.3

p.S35R

c.105C>A

1 paper

NM_022479.3

p.S35R

c.105C>G

1 paper

NM_022479.3

p.P44L

c.131C>T

1 paper

NM_022479.3

p.R45C

c.133C>T

1 paper

NM_022479.3

p.A62V

c.185C>T

1 paper

NM_022479.3

p.R66R

c.198C>A