Varaico: Literature-Extracted Genetic Variants

Gene:WDR5
Variant:p.K27M

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.K27M
c.80A>T
Surrounding Variants
1 paper
NM_017588.3
p.P8P
c.24C>T
10 papers
NM_017588.3
p.K7Q
c.19A>C
1 paper
NM_017588.3
p.M1R
c.2T>G
1 paper
NM_017588.3
p.M1insFs
c.2dupT
1 paper
NM_017588.3
p.L37L
c.109C>T
1 paper
NM_017588.3
p.S62C
c.184A>T
2 papers
NM_017588.3
p.S62N
c.185G>A
1 paper
NM_017588.3
p.W72R
c.214T>A
1 paper
NM_017588.3
p.W72R
c.214T>C
1 paper
NM_017588.3
p.D92N
c.274G>A
1 paper
NM_017588.3
p.S104A
c.310T>G
5 papers
NM_017588.3
p.D107A
c.320A>C
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