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.L284P

c.851T>C

Surrounding Variants

1 paper

NM_001163809.2

p.L284fs

c.850_851fs

1 paper

NM_001163809.2

p.L284delFs

c.850_851delCT

13 papers

NM_001163809.2

p.G282E

c.845G>A

1 paper

NM_001163809.2

p.G278R

c.832G>A

1 paper

NM_001163809.2

p.G278R

c.832G>C

1 paper

NM_001163809.2

p.R276delFs

c.826delC

1 paper

NM_001163809.2

p.D302V

c.905A>T

2 papers

NM_001163809.2

p.R266C

c.796C>T

1 paper

NM_001163809.2

p.E307*

c.919G>T

1 paper

NM_001163809.2

p.E313D

c.939G>C

1 paper

NM_001163809.2

p.E313D

c.939G>T

1 paper

NM_001163809.2

p.A251_K252del1

c.752_754delCCA