Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.R13H

WDR45

258 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

PROPPINaa 8–300UCSCPROPPIN

Gene Aliases

HGNC Name

WD repeat domain 45

HGNC Previous Symbol

WDRX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029896.2
p.R13H
c.38G>A
Surrounding Variants
12 papers
NM_001029896.2
p.R13P
c.38G>C
1 paper
NM_001029896.2
p.L12delins
c.35_36delinsTT
1 paper
NM_001029896.2
p.L12delins
c.35_36delinsTA
1 paper
NM_001029896.2
p.N15K
c.45C>G
1 paper
NM_001029896.2
p.N15K
c.45C>A
4 papers
NM_001029896.2
p.Q16*
c.46C>T
2 papers
NM_001029896.2
p.V9insFs
c.27dupG
2 papers
NM_001029896.2
p.D17A
c.50A>C
4 papers
NM_001029896.2
p.Q18*
c.52C>T
2 papers
NM_001029896.2
p.Q18L
c.53A>T
1 paper
NM_001029896.2
p.Q18R
c.53A>G
1 paper
NM_001029896.2
p.G8*
c.22G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."