Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A254delFs

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.A254delFs
c.760delC
Surrounding Variants
3 papers
NM_001029896.2
p.A254insFs
c.761_762insAG
1 paper
NM_007075.4
p.A255S
c.763G>T
1 paper
NM_001029896.2
p.C253*
c.759C>A
1 paper
NM_001029896.2
p.C253insFs
c.758_759insAG
4 papers
NM_001029896.2
p.F251_L252del1
c.752_754delGGA
1 paper
NM_001029896.2
p.L252R
c.755T>G
1 paper
NM_001029896.2
p.L252P
c.755T>C
1 paper
NM_001029896.2
p.N244_F251del0
c.730_753del24
1 paper
NM_001029896.2
p.F251L
c.753C>G
1 paper
NM_001029896.2
p.F251L
c.753C>A
12 papers
NM_007075.4
p.S251_F252del1
c.752_754delAGG
NM_001029896.2
p.S251del1
c.751_752delGGA
1 paper
NM_001029896.2
p.S249_S250del2
c.745_749del6
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