Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.G68_P72delFs

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.G68_P72delFs
c.204_214del11
Surrounding Variants
1 paper
NM_001029896.2
p.S70_S71insFs
c.210_213dup4
1 paper
NM_001029896.2
p.S71R
c.213T>G
1 paper
NM_001029896.2
p.S71R
c.213T>A
1 paper
NM_001029896.2
p.K73delFs
c.217delT
1 paper
NM_001029896.2
p.S71R
c.211A>C
1 paper
NM_001029896.2
p.S70delFs
c.209delC
3 papers
NM_001029896.2
p.S75*
c.224C>G
5 papers
NM_001029896.2
p.S75*
c.224C>A
2 papers
NM_001029896.2
p.G69fs
c.205_206fs
1 paper
NM_001029896.2
p.G69S
c.205G>A
6 papers
NM_001029896.2
p.E76fs
c.226_227fs
1 paper
NM_001029896.2
p.E76fs
c.226_227fs
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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."