Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.F221fs

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
2 papers
NM_007075.4
p.F221fs
c.661_662fs
Surrounding Variants
2 papers
NM_001029896.2
p.L219delFs
c.657delG
NM_007075.4
p.L220delFs
c.660delG
1 paper
NM_001029896.2
p.L219_F220delFs
c.657_658delAG
1 paper
NM_001029896.2
p.R218delFs
c.654delG
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
2 papers
NM_007075.4
p.I218delFs
c.654delA
NM_001029896.2
p.I217delFs
c.651delA
1 paper
NM_001029896.2
p.I217del1
c.649_650delAAT
1 paper
NM_007075.4
p.R219fs
c.655_656fs
2 papers
NM_001029896.2
p.D221delFs
c.662_663delGT
1 paper
NM_007075.4
p.K226fs
c.676_677fs
1 paper
NM_007075.4
p.S225delFs
c.675delG
1 paper
NM_001029896.2
p.K227R
c.680A>G
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