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.D511H

c.1531G>C

Surrounding Variants

1 paper

NM_001163809.2

p.W517L

c.1550G>T

1 paper

NM_001163809.2

p.D498N

c.1492G>A

1 paper

NM_001163809.2

p.F524L

c.1570T>C

1 paper

NM_001163809.2

p.F524L

c.1572C>A

1 paper

NM_001163809.2

p.F524L

c.1572C>G

6 papers

NM_001163809.2

p.H528Y

c.1582C>T

1 paper

NM_001163809.2

p.R529G

c.1585C>G

1 paper

NM_001163809.2

p.V537delFs

c.1609delG

1 paper

NM_001163809.2

p.V537I

c.1609G>A

1 paper

NM_001163809.2

p.D540H

c.1618G>C

1 paper

NM_001163809.2

p.A478D

c.1433C>A

1 paper

NM_001163809.2

p.L547L

c.1641C>A