Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.G67delFs

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.G67delFs
c.201delG
Surrounding Variants
1 paper
NM_001029896.2
p.G67G
c.201C>T
2 papers
NM_001029896.2
p.G69fs
c.205_206fs
1 paper
NM_001029896.2
p.G69S
c.205G>A
6 papers
NM_001029896.2
p.V66E
c.197T>A
1 paper
NM_001029896.2
p.S70delFs
c.209delC
1 paper
NM_001029896.2
p.S71R
c.211A>C
1 paper
NM_001029896.2
p.S71R
c.213T>G
1 paper
NM_001029896.2
p.S71R
c.213T>A
1 paper
NM_001029896.2
p.S70_S71insFs
c.210_213dup4
2 papers
NM_001029896.2
p.G68_P72delFs
c.204_214del11
1 paper
NM_001029896.2
p.L63P
c.188T>C
3 papers
NM_001029896.2
p.L63fs
c.187_188fs
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