Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.E137insFs

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.E137insFs
c.411dupG
Surrounding Variants
2 papers
NM_001029896.2
p.E137_F138delFs
c.409_412del4
1 paper
NM_001029896.2
p.F136_E137delFs
c.406_409del4
3 papers
NM_001029896.2
p.L135_E137delFs
c.405_409del5
1 paper
NM_001029896.2
p.F138insFs
c.412_413insT
1 paper
NM_001029896.2
p.F136insFs
c.408dupT
1 paper
NM_001029896.2
p.F136fs
c.406_407fs
4 papers
NM_001029896.2
p.K134_F136delFs
c.402_406del5
NM_007075.4
p.K135_F137delFs
c.405_409del5
3 papers
NM_001029896.2
p.E137_D139del0
c.411_416del6
NM_007075.4
p.L136_E138del0
c.408_413del6
4 papers
NM_001029896.2
p.F138_T140del0
c.414_419del6
1 paper
NM_001029896.2
p.R141L
c.422G>T
1 paper
NM_001029896.2
p.K134delFs
c.401delT
2 papers
NM_001029896.2
p.K134delFs
c.400_401delTT
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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."