Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.M1del1

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
2 papers
NM_001029896.2
p.M1del1
c.1_3delCAT
Surrounding Variants
4 papers
NM_001029896.2
p.M1_T2delFs
c.1_5del5
2 papers
NM_001029896.2
p.M1insFs
c.2dupT
1 paper
NM_001029896.2
p.M1I
c.3G>C
2 papers
NM_001029896.2
p.Q3*
c.7C>T
1 paper
NM_001029896.2
p.M1insFs
c.1dupA
2 papers
NM_001029896.2
p.M1T
c.2T>C
1 paper
NM_001029896.2
p.M1K
c.2T>A
7 papers
NM_001029896.2
p.M1V
c.1A>G
4 papers
NM_001029896.2
p.Q4*
c.10C>T
2 papers
NM_001029896.2
p.M1_Q3del3
c.1_8del9
4 papers
NM_001029896.2
p.M1_P5del5
c.1_14del15
21 papers
NM_001029896.2
p.R7*
c.19C>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."