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

1–12 of 86 variants

3 papers

NM_020839.4

p.E293Q

c.877G>C

2 papers

NM_020839.4

p.N8I

c.23A>T

2 papers

NM_020839.4

p.T426_G427delFs

c.1278_1279delAG

2 papers

NM_020839.4

p.K561R

c.1682A>G

2 papers

NM_020839.4

p.E629del1

c.1885_1886delGAA

2 papers

NM_020839.4

p.L648delFs

c.1943_1944delTG

1 paper

NM_020839.4

p.M1V

c.1A>G

1 paper

NM_020839.4

p.G11R

c.31G>C

1 paper

NM_020839.4

p.D23N

c.67G>A

1 paper

NM_020839.4

p.E24E

c.72A>G

1 paper

NM_020839.4

p.F46L

c.136T>C

1 paper

NM_020839.4

p.F46Y

c.137T>A