Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.K227R

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.K227R
c.680A>G
Surrounding Variants
5 papers
NM_007075.4
p.K228_L229del2
c.682_686del6
1 paper
NM_007075.4
p.K226fs
c.676_677fs
1 paper
NM_007075.4
p.S225delFs
c.675delG
5 papers
NM_001029896.2
p.L228_V229del2
c.682_686del6
5 papers
NM_007075.4
p.L232fs
c.694_695fs
NM_001029896.2
p.L231fs
c.691_692fs
2 papers
NM_001029896.2
p.D221delFs
c.662_663delGT
1 paper
NM_001029896.2
p.R232H
c.695G>A
14 papers
NM_007075.4
p.R234*
c.700C>T
NM_001029896.2
p.R233*
c.697C>T
2 papers
NM_001029896.2
p.F220delFs
c.660delA
3 papers
NM_001029896.2
p.F220delFs
c.659_660delAA
NM_007075.4
p.F221delFs
c.662_663delAA
1 paper
NM_001029896.2
p.L219_F220delFs
c.657_658delAG
4 papers
NM_001029896.2
p.L231_G234delFs
c.691_700del10
NM_007075.4
p.L232_G235delFs
c.694_703del10
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."