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

1 paper

NM_001163809.2

p.D37N

c.109G>A

Surrounding Variants

2 papers

NM_001163809.2

p.L45L

c.133C>T

2 papers

NM_001163809.2

p.Q28Q

c.84G>A

1 paper

NM_001163809.2

p.M27L

c.79A>T

1 paper

NM_001163809.2

p.P47S

c.139C>T

1 paper

NM_001163809.2

p.P49insFs

c.146_147insG

1 paper

NM_001163809.2

p.T52fs

c.154_155fs

1 paper

NM_001163809.2

p.L12V

c.34C>G

1 paper

NM_001163809.2

p.A2D

c.5C>A

1 paper

NM_001163809.2

p.M1K

c.2T>A

2 papers

NM_001163809.2

p.L73delFs

c.218delT

2 papers

NM_001163809.2

p.G74fs

c.220_221fs

1 paper

NM_001163809.2

p.A79T

c.235G>A