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.T255T

c.765C>G

Surrounding Variants

1 paper

NM_018383.5

p.Q267*

c.799C>T

1 paper

NM_018383.5

p.R308C

c.922C>T

1 paper

NM_018383.5

p.R318_N319delFs

c.953_957del5

1 paper

NM_018383.5

p.K321fs

c.961_962fs

1 paper

NM_018383.5

p.K321delFs

c.963delT

1 paper

NM_018383.5

p.W339*

c.1016G>A

1 paper

NM_018383.5

p.W339*

c.1017G>A

2 papers

NM_018383.5

p.M377delFs

c.1129delT

1 paper

NM_018383.5

p.M377fs

c.1129_1130fs

1 paper

NM_018383.5

p.Q449*

c.1345C>T

1 paper

NM_018383.5

p.P518L

c.1553C>T

1 paper

NM_018383.5

p.A539V

c.1616C>T