Varaico: Literature-Extracted Genetic Variants

Gene:WDR5
Variant:p.F133L

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
5 papers
NM_017588.3
p.F133L
c.397T>C
Surrounding Variants
5 papers
NM_017588.3
p.F133L
c.399T>A
5 papers
NM_017588.3
p.F133L
c.399T>G
1 paper
NM_017588.3
p.C134F
c.401G>T
1 paper
NM_017588.3
p.Y131F
c.392A>T
1 paper
NM_017588.3
p.K123R
c.368A>G
1 paper
NM_017588.3
p.S146A
c.436T>G
1 paper
NM_017588.3
p.S118_G119Splc
c.355-4A>T
1 paper
NM_017588.3
p.R154K
c.461G>A
1 paper
NM_017588.3
p.C163*
c.489C>A
1 paper
NM_017588.3
p.L167V
c.499T>G
2 papers
NM_017588.3
p.A169P
c.505G>C
1 paper
NM_017588.3
p.S171L
c.512C>T
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