Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.D130E

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.D130E
c.390C>G
Surrounding Variants
1 paper
NM_001029896.2
p.D130E
c.390C>A
1 paper
NM_001029896.2
p.Y126_D130delFs
c.376_388del13
15 papers
NM_001029896.2
p.R133*
c.397C>T
NM_007075.4
p.R134*
c.400C>T
3 papers
NM_001029896.2
p.R133P
c.398G>C
NM_007075.4
p.R134P
c.401G>C
1 paper
NM_001029896.2
p.V125_R133delFs
c.373_397del25
4 papers
NM_007075.4
p.K135fs
c.403_404fs
1 paper
NM_001029896.2
p.K134delFs
c.401delT
2 papers
NM_001029896.2
p.K134delFs
c.400_401delTT
1 paper
NM_001029896.2
p.V125delFs
c.374_375delCA
1 paper
NM_001029896.2
p.V125insFs
c.373dupG
4 papers
NM_001029896.2
p.K134_F136delFs
c.402_406del5
NM_007075.4
p.K135_F137delFs
c.405_409del5
1 paper
NM_007075.4
p.Y125delFs
c.374_375delAT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."