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.H361delFs

c.1081delC

Surrounding Variants

1 paper

NM_001163809.2

p.S358G

c.1072A>G

1 paper

NM_001163809.2

p.G355R

c.1063G>C

1 paper

NM_001163809.2

p.W352*

c.1055G>A

1 paper

NM_001163809.2

p.G371D

c.1112G>A

2 papers

NM_001163809.2

p.E344delFs

c.1030delG

1 paper

NM_001163809.2

p.P384S

c.1150C>T

1 paper

NM_001163809.2

p.P336T

c.1006C>A

1 paper

NM_001163809.2

p.W385delFs

c.1153delT

2 papers

NM_001163809.2

p.V386A

c.1157T>C

1 paper

NM_001163809.2

p.D388N

c.1162G>A

1 paper

NM_001163809.2

p.D388_K403delFs

c.1164_1207del44

1 paper

NM_001163809.2

p.R395C

c.1183C>T