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.S227delFs

c.679delT

Surrounding Variants

1 paper

NM_001163809.2

p.L225fs

c.673_674fs

1 paper

NM_001163809.2

p.L225delFs

c.673delC

1 paper

NM_001163809.2

p.A223T

c.667G>A

1 paper

NM_001163809.2

p.A221V

c.662C>T

1 paper

NM_001163809.2

p.Q239*

c.715C>T

1 paper

NM_001163809.2

p.H243L

c.728A>T

1 paper

NM_001163809.2

p.R210fs

c.628_629fs

1 paper

NM_001163809.2

p.C207insFs

c.620_621insC

1 paper

NM_001163809.2

p.P250S

c.748C>T

1 paper

NM_001163809.2

p.A251_K252del1

c.752_754delCCA

1 paper

NM_001163809.2

p.C198_P199insFs

c.594_597dup4

1 paper

NM_001163809.2

p.E194E

c.582A>G