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.V105A

c.314T>C

Surrounding Variants

1 paper

NM_001163809.2

p.V105V

c.315G>A

1 paper

NM_001163809.2

p.T103T

c.309G>A

1 paper

NM_001163809.2

p.H108P

c.323A>C

1 paper

NM_001163809.2

p.K112T

c.335A>C

1 paper

NM_001163809.2

p.R93C

c.277C>T

1 paper

NM_001163809.2

p.G128R

c.382G>A

1 paper

NM_001163809.2

p.G128R

c.382G>C

1 paper

NM_001163809.2

p.A79T

c.235G>A

1 paper

NM_001163809.2

p.A79S

c.235G>T

2 papers

NM_001163809.2

p.G74fs

c.220_221fs

2 papers

NM_001163809.2

p.L73delFs

c.218delT

1 paper

NM_001163809.2

p.A143V

c.428C>T