Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.Y242*

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
7 papers
NM_007075.4
p.Y242*
c.726C>G
NM_001029896.2
p.Y241*
c.723C>G
Surrounding Variants
6 papers
NM_007075.4
p.Y242*
c.726C>A
NM_001029896.2
p.Y241*
c.723C>A
1 paper
NM_001029896.2
p.L240R
c.719T>G
1 paper
NM_007075.4
p.C243Splc
c.728+2T>A
1 paper
NM_001029896.2
p.T239fs
c.715_716fs
2 papers
NM_007075.4
p.T240insFs
c.718dupA
NM_001029896.2
p.T239insFs
c.715dupA
3 papers
NM_001029896.2
p.R232_T235delFs
c.694_703del10
1 paper
NM_001029896.2
p.R232_G234del0
c.694_702del9
4 papers
NM_001029896.2
p.L231_G234delFs
c.691_700del10
NM_007075.4
p.L232_G235delFs
c.694_703del10
14 papers
NM_007075.4
p.R234*
c.700C>T
NM_001029896.2
p.R233*
c.697C>T
1 paper
NM_001029896.2
p.R232H
c.695G>A
5 papers
NM_007075.4
p.L232fs
c.694_695fs
NM_001029896.2
p.L231fs
c.691_692fs
5 papers
NM_001029896.2
p.L228_V229del2
c.682_686del6
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