Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.C246S

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.C246S
c.736T>A
Surrounding Variants
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
1 paper
NM_019613.4
p.A259delFs
c.777delA
4 papers
NM_019613.4
p.Q267*
c.799C>T
1 paper
NM_019613.4
p.W284*
c.851G>A
1 paper
NM_019613.4
p.W284*
c.852G>A
1 paper
NM_019613.4
p.Q290*
c.868C>T
1 paper
NM_019613.4
p.E304delFs
c.912delC
1 paper
NM_019613.4
p.N306D
c.916A>G
1 paper
NM_019613.4
p.A307delFs
c.921delG
1 paper
NM_019613.4
p.I311V
c.931A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."