Varaico: Literature-Extracted Genetic Variants

Gene:WDR5
Variant:p.K227Q

WDR5

103 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

Beta-prop_WDR5aa 40–331UCSCWDR5 beta-propeller domain

Gene Aliases

HGNC Name

WD repeat domain 5

HGNC Alias Symbols

SWD3; CFAP89; BIG-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017588.3
p.K227Q
c.679A>C
Surrounding Variants
1 paper
NM_017588.3
p.L234ins1
c.700_701insCCA
1 paper
NM_017588.3
p.L234ins1
c.700_701insCCG
1 paper
NM_017588.3
p.D235insFs
c.703_704insG
1 paper
NM_017588.3
p.S218F
c.653C>T
1 paper
NM_017588.3
p.V217G
c.650T>G
1 paper
NM_017588.3
p.V217fs
c.649_650fs
1 paper
NM_017588.3
p.P216L
c.647C>T
1 paper
NM_017588.3
p.P215R
c.644C>G
1 paper
NM_017588.3
p.P215L
c.644C>T
1 paper
NM_017588.3
p.P215S
c.643C>T
2 papers
NM_017588.3
p.N214delFs
c.642delC
2 papers
NM_017588.3
p.N214fs
c.640_641fs
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