Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.I221delFs

WDR45B

38 papers

RefSeq Summary

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates...

Pfam Domains

PROPPINaa 13–303UCSCPROPPIN

Gene Aliases

HGNC Name

WD repeat domain 45B

HGNC Previous Symbol

WDR45L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019613.4
p.I221delFs
c.662_663delGA
Surrounding Variants
1 paper
NM_019613.4
p.L220delFs
c.660delT
5 papers
NM_019613.4
p.R225*
c.673C>T
1 paper
NM_019613.4
p.G218delFs
c.654delC
2 papers
NM_019613.4
p.R225Q
c.674G>A
2 papers
NM_019613.4
p.R226T
c.677G>C
1 paper
NM_019613.4
p.Q229E
c.685C>G
1 paper
NM_019613.4
p.S228_Q229del2
c.682_686del6
1 paper
NM_019613.4
p.I210delFs
c.629delA
1 paper
NM_019613.4
p.C246S
c.736T>A
1 paper
NM_019613.4
p.C246S
c.737G>C
1 paper
NM_019613.4
p.G252S
c.754G>A
1 paper
NM_019613.4
p.H251_G252del1
c.752_754delCGT
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