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

2 papers

NM_001163809.2

p.M828delFs

c.2484delG

Surrounding Variants

1 paper

NM_001163809.2

p.L826M

c.2476C>A

1 paper

NM_001163809.2

p.P850_V851del2

c.2548_2552del6

1 paper

NM_001163809.2

p.P850H

c.2549C>A

1 paper

NM_001163809.2

p.P850R

c.2549C>G

15 papers

NM_001163809.2

p.P856L

c.2567C>T

1 paper

NM_001163809.2

p.C859Y

c.2576G>A

1 paper

NM_001163809.2

p.Q764_D770del0

c.2292_2309del18

1 paper

NM_001163809.2

p.P759L

c.2276C>T

1 paper

NM_001163809.2

p.R899H

c.2696G>A

1 paper

NM_001163809.2

p.P752S

c.2254C>T

1 paper

NM_001163809.2

p.P752_Q754del3

c.2254_2261del9

1 paper

NM_001163809.2

p.M728insFs

c.2182dupA