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

Selected Variant

1 paper

NM_022479.3

p.P420P

c.1260G>A

Surrounding Variants

2 papers

NM_022479.3

p.I379T

c.1136T>C

1 paper

NM_022479.3

p.A377S

c.1129G>T

3 papers

NM_022479.3

p.R375Q

c.1124G>A

1 paper

NM_022479.3

p.R375W

c.1123C>T

1 paper

NM_022479.3

p.G425E

c.1274G>A

1 paper

NM_022479.3

p.D427G

c.1280A>G

1 paper

NM_022479.3

p.G429S

c.1285G>A

1 paper

NM_022479.3

p.E433K

c.1297G>A

1 paper

NM_022479.3

p.D451E

c.1353C>A

1 paper

NM_022479.3

p.H452N

c.1354C>A

1 paper

NM_022479.3

p.P455S

c.1363C>T

1 paper

NM_022479.3

p.M457I

c.1371G>A