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.G98S

c.292G>A

Surrounding Variants

1 paper

NM_022479.3

p.R94Q

c.281G>A

2 papers

NM_022479.3

p.R94W

c.280C>T

1 paper

NM_022479.3

p.P105T

c.313C>A

1 paper

NM_022479.3

p.S84F

c.251C>T

1 paper

NM_022479.3

p.K83*

c.247A>T

1 paper

NM_022479.3

p.G113R

c.337G>C

1 paper

NM_022479.3

p.E126fs

c.376_377fs

1 paper

NM_022479.3

p.E126delFs

c.377delA

1 paper

NM_022479.3

p.R132H

c.395G>A

1 paper

NM_022479.3

p.S133F

c.398C>T

1 paper

NM_022479.3

p.T140S

c.418A>T

1 paper

NM_022479.3

p.T140S

c.419C>G