Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.A208V

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.A208V
c.623C>T
Surrounding Variants
4 papers
NM_007075.4
p.A209D
c.626C>A
NM_001029896.2
p.A208D
c.623C>A
3 papers
NM_001029896.2
p.S209P
c.625T>C
NM_007075.4
p.S210P
c.628T>C
1 paper
NM_007075.4
p.A209delFs
c.627delG
1 paper
NM_007075.4
p.S210fs
c.628_629fs
1 paper
NM_007075.4
p.S210*
c.629C>G
4 papers
NM_001029896.2
p.S209*
c.626C>A
NM_007075.4
p.S210*
c.629C>A
2 papers
NM_001029896.2
p.S209delFs
c.626delG
NM_007075.4
p.S210delFs
c.629delG
1 paper
NM_001029896.2
p.A210A
c.630C>A
1 paper
NM_001029896.2
p.S211A
c.631T>G
2 papers
NM_001029896.2
p.A210delFs
c.629delG
1 paper
NM_001029896.2
p.S211S
c.633C>A
4 papers
NM_001029896.2
p.Q212*
c.634C>T
NM_007075.4
p.Q213*
c.637C>T
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