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.Q34delFs

c.100_101delTG

Surrounding Variants

1 paper

NM_018383.5

p.Q34fs

c.100_101fs

1 paper

NM_018383.5

p.R54Q

c.161G>A

1 paper

NM_018383.5

p.P15S

c.43C>T

1 paper

NM_018383.5

p.M14V

c.40A>G

1 paper

NM_018383.5

p.D58H

c.172G>C

1 paper

NM_018383.5

p.A2insFs

c.5dupC

1 paper

NM_018383.5

p.N69S

c.206A>G

2 papers

NM_018383.5

p.P84S

c.250C>T

1 paper

NM_018383.5

p.Y89C

c.266A>G

1 paper

NM_018383.5

p.L99fs

c.295_296fs

1 paper

NM_018383.5

p.N100K

c.300T>G

1 paper

NM_018383.5

p.N100K

c.300T>A