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.W67_C68delFs

c.199_203del5

Surrounding Variants

1 paper

NM_181265.4

p.T61I

c.182C>T

1 paper

NM_181265.4

p.E48K

c.142G>A

1 paper

NM_181265.4

p.S100R

c.300T>A

1 paper

NM_181265.4

p.W130C

c.390G>C

1 paper

NM_181265.4

p.W130C

c.390G>T

1 paper

NM_181265.4

p.H158L

c.473A>T

1 paper

NM_181265.4

p.G172R

c.514G>A

1 paper

NM_181265.4

p.G172R

c.514G>C

1 paper

NM_181265.4

p.S173G

c.517A>G

1 paper

NM_181265.4

p.H178Y

c.532C>T

1 paper

NM_181265.4

p.K19K

c.57G>A

1 paper

NM_181265.4

p.K19_S25del0

c.55_75del21