Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.V79Splc

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.V79Splc
c.235+5G>A
Surrounding Variants
5 papers
NM_001029896.2
p.V79Splc
c.235+1G>T
9 papers
NM_001029896.2
p.V79Splc
c.235+1G>A
1 paper
NM_001029896.2
p.V79L
c.235G>T
1 paper
NM_001029896.2
p.V79M
c.235G>A
8 papers
NM_001029896.2
p.E76_I77delFs
c.228_229delTC
1 paper
NM_001029896.2
p.E76fs
c.226_227fs
6 papers
NM_001029896.2
p.E76fs
c.226_227fs
3 papers
NM_001029896.2
p.S75*
c.224C>G
5 papers
NM_001029896.2
p.S75*
c.224C>A
1 paper
NM_001029896.2
p.K73delFs
c.217delT
2 papers
NM_001029896.2
p.G68_P72delFs
c.204_214del11
1 paper
NM_001029896.2
p.S70_S71insFs
c.210_213dup4
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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."