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.K561R

c.1682A>G

Surrounding Variants

1 paper

NM_020839.4

p.P571R

c.1712C>G

1 paper

NM_020839.4

p.L580*

c.1739T>A

1 paper

NM_020839.4

p.L580*

c.1739T>G

1 paper

NM_020839.4

p.L580F

c.1740A>C

1 paper

NM_020839.4

p.L580F

c.1740A>T

1 paper

NM_020839.4

p.V555_D556insA

c.1663_1667ins3

1 paper

NM_020839.4

p.S615R

c.1843A>C

1 paper

NM_020839.4

p.S615R

c.1845C>A

1 paper

NM_020839.4

p.S615R

c.1845C>G

1 paper

NM_020839.4

p.T545_V546del1

c.1634_1636delCAG

2 papers

NM_020839.4

p.E629del1

c.1885_1886delGAA

1 paper

NM_020839.4

p.D630E

c.1890T>A