Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.G146Splc

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.G146Splc
c.436+5G>C
Surrounding Variants
1 paper
NM_001029896.2
p.G146Splc
c.436+2T>G
3 papers
NM_001029896.2
p.G146Splc
c.436+1G>T
NM_007075.4
p.G147Splc
c.439+1G>T
1 paper
NM_001029896.2
p.G146R
c.436G>C
3 papers
NM_001029896.2
p.K145insFs
c.434dupA
NM_007075.4
p.K146insFs
c.437dupA
1 paper
NM_001029896.2
p.P144P
c.432C>G
1 paper
NM_001029896.2
p.R141L
c.422G>T
4 papers
NM_001029896.2
p.F138_T140del0
c.414_419del6
3 papers
NM_001029896.2
p.E137_D139del0
c.411_416del6
NM_007075.4
p.L136_E138del0
c.408_413del6
1 paper
NM_001029896.2
p.F138insFs
c.412_413insT
2 papers
NM_001029896.2
p.E137_F138delFs
c.409_412del4
1 paper
NM_001029896.2
p.E137insFs
c.411dupG
1 paper
NM_001029896.2
p.F136_E137delFs
c.406_409del4
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