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

1–12 of 219 variants

15 papers

NM_001163809.2

p.P856L

c.2567C>T

13 papers

NM_001163809.2

p.G282E

c.845G>A

7 papers

NM_001163809.2

p.Q1096*

c.3286C>T

6 papers

NM_001163809.2

p.H528Y

c.1582C>T

6 papers

NM_001163809.2

p.F946_E947delFs

c.2836_2839del4

5 papers

NM_001163809.2

p.Q628*

c.1882C>T

5 papers

NM_001163809.2

p.P1238R

c.3713C>G

5 papers

NM_001163809.2

p.G1615R

c.4843G>A

5 papers

NM_001163809.2

p.G1615R

c.4843G>C

4 papers

NM_001163809.2

p.G579R

c.1735G>A

4 papers

NM_001163809.2

p.P1274_N1279delFs

c.3820_3835del16

4 papers

NM_001163809.2

p.R1333*

c.3997C>T