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.G1088R

c.3262G>C

Surrounding Variants

1 paper

NM_001163809.2

p.G1088R

c.3262G>A

1 paper

NM_001163809.2

p.G1088_Y1090delFs

c.3262_3268del7

1 paper

NM_001163809.2

p.S1094C

c.3281C>G

7 papers

NM_001163809.2

p.Q1096*

c.3286C>T

NM_152348.4

p.Q45*

c.133C>T

1 paper

NM_001163809.2

p.E1101K

c.3301G>A

2 papers

NM_001163809.2

p.V1071I

c.3211G>A

1 paper

NM_001163809.2

p.G1106C

c.3316G>T

1 paper

NM_001163809.2

p.L1108M

c.3322C>A

1 paper

NM_001163809.2

p.E1127K

c.3379G>A

1 paper

NM_001163809.2

p.E1127delFs

c.3381delG

1 paper

NM_001163809.2

p.A1130T

c.3388G>A

1 paper

NM_001163809.2

p.P1037S

c.3109C>T