Varaico: Literature-Extracted Genetic Variants

Gene:WDR5
Variant:p.Y191F

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
6 papers
NM_017588.3
p.Y191F
c.572A>T
Surrounding Variants
1 paper
NM_017588.3
p.D192E
c.576T>A
1 paper
NM_017588.3
p.D192E
c.576T>G
1 paper
NM_017588.3
p.S188A
c.562T>G
1 paper
NM_017588.3
p.C195Splc
c.585-83C>T
2 papers
NM_017588.3
p.R196C
c.586C>T
1 paper
NM_017588.3
p.R196H
c.587G>A
2 papers
NM_017588.3
p.A201V
c.602C>T
3 papers
NM_017588.3
p.T208M
c.623C>T
1 paper
NM_017588.3
p.S175L
c.524C>T
4 papers
NM_017588.3
p.D172A
c.515A>C
1 paper
NM_017588.3
p.S171L
c.512C>T
2 papers
NM_017588.3
p.A169P
c.505G>C
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