Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.L62delFs

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
6 papers
NM_001029896.2
p.L62delFs
c.186delA
Surrounding Variants
3 papers
NM_001029896.2
p.L63fs
c.187_188fs
1 paper
NM_001029896.2
p.L63P
c.188T>C
2 papers
NM_001029896.2
p.L62P
c.185T>C
14 papers
NM_001029896.2
p.N61K
c.183C>G
14 papers
NM_001029896.2
p.N61K
c.183C>A
2 papers
NM_001029896.2
p.N61T
c.182A>C
6 papers
NM_001029896.2
p.V66E
c.197T>A
1 paper
NM_001029896.2
p.G67G
c.201C>T
1 paper
NM_001029896.2
p.G67delFs
c.201delG
2 papers
NM_001029896.2
p.G69fs
c.205_206fs
1 paper
NM_001029896.2
p.G69S
c.205G>A
1 paper
NM_001029896.2
p.L57M
c.169C>A
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