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_152348.4

p.G538R

c.1612G>C

Surrounding Variants

1 paper

NM_001163809.2

p.V1588delFs

c.4762delG

1 paper

NM_001163809.2

p.R1608Q

c.4823G>A

5 papers

NM_001163809.2

p.G1615R

c.4843G>A

5 papers

NM_001163809.2

p.G1615R

c.4843G>C

2 papers

NM_001163809.2

p.S1556_G1557delFs

c.4668_4669delAG

1 paper

NM_001163809.2

p.A1632V

c.4895C>T

1 paper

NM_001163809.2

p.G1537S

c.4609G>A

3 papers

NM_001163809.2

p.M1535V

c.4603A>G

1 paper

NM_001163809.2

p.S1648L

c.4943C>T

1 paper

NM_001163809.2

p.A1655T

c.4963G>A

1 paper

NM_001163809.2

p.E1508K

c.4522G>A

1 paper

NM_001163809.2

p.T1671A

c.5011A>G