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.P596S

c.1786C>T

Surrounding Variants

1 paper

NM_001163809.2

p.R591H

c.1772G>A

1 paper

NM_001163809.2

p.H588Q

c.1764C>A

1 paper

NM_001163809.2

p.L604R

c.1811T>G

1 paper

NM_001163809.2

p.V581A

c.1742T>C

4 papers

NM_001163809.2

p.G579R

c.1735G>A

3 papers

NM_001163809.2

p.G579R

c.1735G>C

2 papers

NM_001163809.2

p.R619W

c.1855C>T

1 paper

NM_001163809.2

p.E620_D621insC

c.1858_1862ins3

5 papers

NM_001163809.2

p.Q628*

c.1882C>T

1 paper

NM_001163809.2

p.V564M

c.1690G>A

3 papers

NM_001163809.2

p.L629F

c.1885C>T

1 paper

NM_001163809.2

p.K552I

c.1655A>T