Varaico: Literature-Extracted Genetic Variants

Gene:WDR33
Variant:p.R1326Q

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
1 paper
NM_018383.5
p.R1326Q
c.3977G>A
Surrounding Variants
1 paper
NM_018383.5
p.A1328D
c.3983C>A
1 paper
NM_018383.5
p.S1321C
c.3962C>G
1 paper
NM_018383.5
p.G1333*
c.3997G>T
1 paper
NM_018383.5
p.R1308Q
c.3923G>A
1 paper
NM_018383.5
p.G1296D
c.3887G>A
1 paper
NM_018383.5
p.S1279C
c.3836C>G
1 paper
NM_018383.5
p.S1278ins0
c.3832_3834dupAGC
1 paper
NM_018383.5
p.G1251R
c.3751G>C
1 paper
NM_018383.5
p.G1251R
c.3751G>A
1 paper
NM_018383.5
p.E1248K
c.3742G>A
1 paper
NM_018383.5
p.M1247I
c.3741G>T
1 paper
NM_018383.5
p.M1247I
c.3741G>C
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