Varaico: Literature-Extracted Genetic Variants

WDR17

50 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants ...

Pfam Domains

WD40aa 73–112UCSCWD domain, G-beta repeat

WD40aa 384–422UCSCWD domain, G-beta repeat

WD40aa 469–508UCSCWD domain, G-beta repeat

WD40aa 512–549UCSCWD domain, G-beta repeat

WD40aa 556–595UCSCWD domain, G-beta repeat

WD40aa 599–638UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 17

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181265.4

p.K493R

c.1478A>G

Surrounding Variants

1 paper

NM_181265.4

p.A473T

c.1417G>A

1 paper

NM_181265.4

p.R523C

c.1567C>T

1 paper

NM_181265.4

p.G540E

c.1619G>A

1 paper

NM_181265.4

p.H547Y

c.1639C>T

1 paper

NM_181265.4

p.K444N

c.1332G>C

1 paper

NM_181265.4

p.K444N

c.1332G>T

1 paper

NM_181265.4

p.I597_Y608del12

c.1789_1823del36

1 paper

NM_181265.4

p.N400K

c.1200C>A

1 paper

NM_181265.4

p.N400K

c.1200C>G

1 paper

NM_181265.4

p.I399T

c.1196T>C

1 paper

NM_181265.4

p.P382S

c.1144C>T

1 paper

NM_181265.4

p.R640H

c.1919G>A