Varaico: Literature-Extracted Genetic Variants

WDR81

154 papers

RefSeq Summary

This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated w...

Pfam Domains

Beachaa 350–591UCSCBeige/BEACH domain

WD40aa 1638–1676UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 81

HGNC Alias Symbols

FLJ33817; PPP1R166; CAMRQ2; SORF-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001163809.2

p.F946_E947delFs

c.2836_2839del4

Surrounding Variants

1 paper

NM_001163809.2

p.F946fs

c.2836_2837fs

3 papers

NM_001163809.2

p.F946fs

c.2836_2837fs

1 paper

NM_001163809.2

p.T941M

c.2822C>T

2 papers

NM_001163809.2

p.K956Q

c.2866A>C

1 paper

NM_001163809.2

p.P965L

c.2894C>T

1 paper

NM_001163809.2

p.Y981delFs

c.2943delC

1 paper

NM_001163809.2

p.T984T

c.2952G>A

1 paper

NM_001163809.2

p.R899H

c.2696G>A

1 paper

NM_001163809.2

p.V1008I

c.3022G>A

1 paper

NM_001163809.2

p.A1013V

c.3038C>T

1 paper

NM_001163809.2

p.A1013A

c.3039G>A

3 papers

NM_001163809.2

p.E1030del1

c.3088_3089delGAG