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.Y451*

c.1353T>A

Surrounding Variants

1 paper

NM_001163809.2

p.Y451*

c.1353T>G

2 papers

NM_001163809.2

p.Y453insFs

c.1358dupA

3 papers

NM_001163809.2

p.Y453*

c.1359C>A

3 papers

NM_001163809.2

p.Y453*

c.1359C>G

1 paper

NM_001163809.2

p.T449M

c.1346C>T

1 paper

NM_001163809.2

p.R468H

c.1403G>A

1 paper

NM_001163809.2

p.G428R

c.1282G>A

1 paper

NM_001163809.2

p.G428R

c.1282G>C

1 paper

NM_001163809.2

p.A478D

c.1433C>A

1 paper

NM_001163809.2

p.V425I

c.1273G>A

1 paper

NM_001163809.2

p.D498N

c.1492G>A

1 paper

NM_001163809.2

p.R395C

c.1183C>T