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

1 paper

NM_020839.4

p.I54L

c.160A>C

Surrounding Variants

1 paper

NM_020839.4

p.I54L

c.160A>T

1 paper

NM_020839.4

p.W57C

c.171G>C

1 paper

NM_020839.4

p.W57C

c.171G>T

1 paper

NM_020839.4

p.A48T

c.142G>A

1 paper

NM_020839.4

p.N60S

c.179A>G

1 paper

NM_020839.4

p.N60I

c.179A>T

1 paper

NM_020839.4

p.F46L

c.138C>A

1 paper

NM_020839.4

p.F46L

c.138C>G

1 paper

NM_020839.4

p.F46Y

c.137T>A

1 paper

NM_020839.4

p.F46L

c.136T>C

1 paper

NM_020839.4

p.E24E

c.72A>G

1 paper

NM_020839.4

p.D23N

c.67G>A