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.R700K

c.2099G>A

Surrounding Variants

1 paper

NM_181265.4

p.C695*

c.2085T>A

1 paper

NM_181265.4

p.A711insFs

c.2131_2132ins4

1 paper

NM_181265.4

p.E687insFs

c.2059_2060ins4

1 paper

NM_181265.4

p.E687fs

c.2059_2060fs

1 paper

NM_181265.4

p.C724Y

c.2171G>A

1 paper

NM_181265.4

p.M644L

c.1930A>C

1 paper

NM_181265.4

p.M644L

c.1930A>T

1 paper

NM_181265.4

p.R640H

c.1919G>A

1 paper

NM_181265.4

p.A790T

c.2368G>A

1 paper

NM_181265.4

p.I597_Y608del12

c.1789_1823del36

1 paper

NM_181265.4

p.H547Y

c.1639C>T

1 paper

NM_181265.4

p.G540E

c.1619G>A