Varaico: Literature-Extracted Genetic Variants

Gene:WDR45

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
1–12 of 512 variants
21 papers
NM_001029896.2
p.R7*
c.19C>T
16 papers
NM_001029896.2
p.V54_E55del1
c.161_163delCCA
14 papers
NM_001029896.2
p.N61K
c.183C>G
14 papers
NM_001029896.2
p.N61K
c.183C>A
12 papers
NM_001029896.2
p.R13P
c.38G>C
12 papers
NM_007075.4
p.A277Splc
c.830+1G>A
9 papers
NM_001029896.2
p.V79Splc
c.235+1G>A
8 papers
NM_001029896.2
p.R7insFs
c.19dupC
8 papers
NM_001029896.2
p.D44Splc
c.131-1G>A
8 papers
NM_001029896.2
p.E76_I77delFs
c.228_229delTC
8 papers
NM_001029896.2
p.R133*
c.397C>T
8 papers
NM_007075.4
p.R234*
c.700C>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."