Varaico: Literature-Extracted Genetic Variants

WDR48

141 papers

RefSeq Summary

The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety ...

Pfam Domains

WD40aa 24–58UCSCWD domain, G-beta repeat

WD40aa 66–103UCSCWD domain, G-beta repeat

WD40aa 107–145UCSCWD domain, G-beta repeat

WD40aa 157–196UCSCWD domain, G-beta repeat

WD40aa 200–238UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 48

HGNC Alias Symbols

KIAA1449; P80; SPG60; Bun62

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020839.4

p.T426_G427delFs

c.1278_1279delAG

Surrounding Variants

1 paper

NM_020839.4

p.G427fs

c.1279_1280fs

1 paper

NM_020839.4

p.G427fs

c.1279_1280fs

1 paper

NM_020839.4

p.S421A

c.1261T>G

1 paper

NM_020839.4

p.G399C

c.1195G>T

1 paper

NM_020839.4

p.G463A

c.1388G>C

1 paper

NM_020839.4

p.E472K

c.1414G>A

1 paper

NM_020839.4

p.Q501H

c.1503G>C

1 paper

NM_020839.4

p.Q501H

c.1503G>T

1 paper

NM_020839.4

p.H512D

c.1534C>G

1 paper

NM_020839.4

p.V515L

c.1543G>C

1 paper

NM_020839.4

p.V515L

c.1543G>T

1 paper

NM_020839.4

p.S362C

c.1084A>T