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.Q886_A887Splc

c.2659-1G>C

Surrounding Variants

1 paper

NM_181265.4

p.S899F

c.2696C>T

1 paper

NM_181265.4

p.D909N

c.2725G>A

1 paper

NM_181265.4

p.D947Y

c.2839G>T

2 papers

NM_181265.4

p.G959R

c.2875G>A

2 papers

NM_181265.4

p.G959R

c.2875G>C

2 papers

NM_181265.4

p.A983T

c.2947G>A

1 paper

NM_181265.4

p.I827M

c.2481T>G

1 paper

NM_181265.4

p.L1003V

c.3007C>G

1 paper

NM_181265.4

p.A790T

c.2368G>A