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.M728insFs

c.2182dupA

Surrounding Variants

1 paper

NM_001163809.2

p.P752_Q754del3

c.2254_2261del9

1 paper

NM_001163809.2

p.R703S

c.2109G>C

1 paper

NM_001163809.2

p.P752S

c.2254C>T

1 paper

NM_001163809.2

p.P759L

c.2276C>T

1 paper

NM_001163809.2

p.F692L

c.2074T>C

1 paper

NM_001163809.2

p.S691C

c.2072C>G

1 paper

NM_001163809.2

p.Q764_D770del0

c.2292_2309del18

1 paper

NM_001163809.2

p.Q684P

c.2051A>C

1 paper

NM_001163809.2

p.E664K

c.1990G>A

2 papers

NM_001163809.2

p.P652L

c.1955C>T

1 paper

NM_001163809.2

p.R651delFs

c.1952delG

1 paper

NM_001163809.2

p.P642L

c.1925C>T