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.C1035S

c.3104G>C

Surrounding Variants

1 paper

NM_181265.4

p.C1035S

c.3103T>A

1 paper

NM_181265.4

p.N1055N

c.3165T>C

1 paper

NM_181265.4

p.L1091F

c.3273G>C

1 paper

NM_181265.4

p.L1091F

c.3273G>T

1 paper

NM_181265.4

p.I1094V

c.3280A>G

2 papers

NM_181265.4

p.R1118Q

c.3353G>A

1 paper

NM_181265.4

p.L1003V

c.3007C>G

1 paper

NM_181265.4

p.W1174del1

c.3520_3522delTGG

1 paper

NM_181265.4

p.S1184T

c.3550T>A

1 paper

NM_181265.4

p.E1210K

c.3628G>A

4 papers

NM_181265.4

p.G1215R

c.3643G>A

1 paper

NM_181265.4

p.P1228L

c.3683C>T