Varaico: Literature-Extracted Genetic Variants

WDR33

91 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 151–189UCSCWD domain, G-beta repeat

WD40aa 192–230UCSCWD domain, G-beta repeat

WD40aa 234–267UCSCWD domain, G-beta repeat

WD40aa 278–316UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 33

HGNC Alias Symbols

FLJ11294; WDC146; NET14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018383.5

p.A539V

c.1616C>T

Surrounding Variants

1 paper

NM_018383.5

p.T551I

c.1652C>T

1 paper

NM_018383.5

p.P518L

c.1553C>T

1 paper

NM_018383.5

p.Q449*

c.1345C>T

1 paper

NM_018383.5

p.G584*

c.1750G>T

1 paper

NM_018383.5

p.P587S

c.1759C>T

1 paper

NM_018383.5

p.P589S

c.1765C>T

1 paper

NM_018383.5

p.P589L

c.1766C>T

1 paper

NM_018383.5

p.P629S

c.1885C>T

1 paper

NM_018383.5

p.G633E

c.1898G>A

1 paper

NM_018383.5

p.Q644E

c.1930C>G

1 paper

NM_018383.5

p.G648fs

c.1942_1943fs

1 paper

NM_018383.5

p.G648delFs

c.1944delC