Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.Y125delFs

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_007075.4
p.Y125delFs
c.374_375delAT
Surrounding Variants
1 paper
NM_001029896.2
p.V125insFs
c.373dupG
1 paper
NM_001029896.2
p.V125delFs
c.374_375delCA
1 paper
NM_001029896.2
p.I123V
c.367A>G
2 papers
NM_001029896.2
p.K120insFs
c.359dupA
4 papers
NM_007075.4
p.K121fs
c.361_362fs
4 papers
NM_001029896.2
p.L119insFs
c.356dupT
NM_007075.4
p.L120insFs
c.359dupT
1 paper
NM_001029896.2
p.Y126_D130delFs
c.376_388del13
1 paper
NM_001029896.2
p.D130E
c.390C>G
1 paper
NM_001029896.2
p.D130E
c.390C>A
1 paper
NM_001029896.2
p.I117delFs
c.349delT
15 papers
NM_001029896.2
p.R133*
c.397C>T
NM_007075.4
p.R134*
c.400C>T
3 papers
NM_001029896.2
p.R133P
c.398G>C
NM_007075.4
p.R134P
c.401G>C
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