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

4 papers

NM_001163809.2

p.R1333*

c.3997C>T

Surrounding Variants

1 paper

NM_001163809.2

p.V1323A

c.3968T>C

4 papers

NM_001163809.2

p.V1346_T1347ins0

c.4036_4041dup6

1 paper

NM_001163809.2

p.G1386Splc

c.4157+5G>A

1 paper

NM_001163809.2

p.E1308E

c.3924G>A

2 papers

NM_001163809.2

p.R1304H

c.3911G>A

1 paper

NM_001163809.2

p.P1285R

c.3854C>G

3 papers

NM_001163809.2

p.P1274fs

c.3820_3821fs

4 papers

NM_001163809.2

p.P1274_N1279delFs

c.3820_3835del16

1 paper

NM_001163809.2

p.G1259*

c.3775G>T

1 paper

NM_152348.4

p.R200H

c.599G>A

5 papers

NM_001163809.2

p.P1238R

c.3713C>G

1 paper

NM_001163809.2

p.W1231*

c.3693G>A