Varaico: Literature-Extracted Genetic Variants

Gene:WDR33
Variant:p.P839A

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 192–230UCSCWD domain, G-beta repeat
WD40aa 234–267UCSCWD 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
2 papers
NM_018383.5
p.P839A
c.2515C>G
Surrounding Variants
1 paper
NM_018383.5
p.G838E
c.2513G>A
1 paper
NM_018383.5
p.R828K
c.2483G>A
1 paper
NM_018383.5
p.Q850fs
c.2548_2549fs
1 paper
NM_018383.5
p.R853Q
c.2558G>A
1 paper
NM_018383.5
p.G823S
c.2467G>A
1 paper
NM_018383.5
p.G817S
c.2449G>A
1 paper
NM_018383.5
p.Q861H
c.2583G>T
1 paper
NM_018383.5
p.Q861H
c.2583G>C
1 paper
NM_018383.5
p.P873S
c.2617C>T
1 paper
NM_018383.5
p.P873L
c.2618C>T
1 paper
NM_018383.5
p.G804D
c.2411G>A
1 paper
NM_018383.5
p.M803L
c.2407A>T
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