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

1–12 of 107 variants

4 papers

NM_018383.5

p.M677V

c.2029A>G

2 papers

NM_018383.5

p.P84S

c.250C>T

2 papers

NM_018383.5

p.R112W

c.334C>T

2 papers

NM_018383.5

p.M377delFs

c.1129delT

2 papers

NM_018383.5

p.P658S

c.1972C>T

2 papers

NM_018383.5

p.P839A

c.2515C>G

2 papers

NM_018383.5

p.R1196C

c.3586C>T

1 paper

NM_018383.5

p.A2insFs

c.5dupC

1 paper

NM_018383.5

p.M14V

c.40A>G

1 paper

NM_018383.5

p.P15S

c.43C>T

1 paper

NM_018383.5

p.Q34fs

c.100_101fs

1 paper

NM_018383.5

p.Q34delFs

c.100_101delTG