Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.R234*

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
14 papers
NM_007075.4
p.R234*
c.700C>T
NM_001029896.2
p.R233*
c.697C>T
Surrounding Variants
1 paper
NM_001029896.2
p.R232H
c.695G>A
4 papers
NM_001029896.2
p.L231_G234delFs
c.691_700del10
NM_007075.4
p.L232_G235delFs
c.694_703del10
5 papers
NM_007075.4
p.L232fs
c.694_695fs
NM_001029896.2
p.L231fs
c.691_692fs
1 paper
NM_001029896.2
p.R232_G234del0
c.694_702del9
3 papers
NM_001029896.2
p.R232_T235delFs
c.694_703del10
5 papers
NM_001029896.2
p.L228_V229del2
c.682_686del6
5 papers
NM_007075.4
p.K228_L229del2
c.682_686del6
1 paper
NM_001029896.2
p.K227R
c.680A>G
2 papers
NM_007075.4
p.T240insFs
c.718dupA
NM_001029896.2
p.T239insFs
c.715dupA
1 paper
NM_001029896.2
p.T239fs
c.715_716fs
1 paper
NM_001029896.2
p.L240R
c.719T>G
1 paper
NM_007075.4
p.K226fs
c.676_677fs
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."