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.K303N

c.909A>T

Surrounding Variants

1 paper

NM_181265.4

p.R302G

c.904A>G

1 paper

NM_181265.4

p.Q308K

c.922C>A

1 paper

NM_181265.4

p.A322G

c.965C>G

1 paper

NM_181265.4

p.P324Q

c.971C>A

1 paper

NM_181265.4

p.Q332K

c.994C>A

1 paper

NM_181265.4

p.P254S

c.760C>T

1 paper

NM_181265.4

p.E199_T203del0

c.597_608del12

1 paper

NM_181265.4

p.E199_T203del5

c.595_608del15

1 paper

NM_181265.4

p.V187G

c.560T>G

1 paper

NM_181265.4

p.P382S

c.1144C>T

1 paper

NM_181265.4

p.I399T

c.1196T>C

1 paper

NM_181265.4

p.N400K

c.1200C>A