Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.C242W

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
8 papers
NM_001029896.2
p.C242W
c.726C>G
Surrounding Variants
1 paper
NM_007075.4
p.C243Splc
c.729-1G>A
1 paper
NM_001029896.2
p.C242Splc
c.726-2A>T
2 papers
NM_001029896.2
p.C242Splc
c.726-2A>G
1 paper
NM_001029896.2
p.S246insFs
c.736_737insT
1 paper
NM_007075.4
p.S247I
c.740G>T
1 paper
NM_001029896.2
p.D248del1
c.742_744delGTC
2 papers
NM_001029896.2
p.S249delFs
c.747delG
NM_007075.4
p.S250delFs
c.750delG
1 paper
NM_001029896.2
p.F251V
c.751T>G
1 paper
NM_001029896.2
p.F251L
c.751T>C
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
1 paper
NM_001029896.2
p.F251L
c.753C>G
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