Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
1 paper
NM_019613.4
p.M1_N2delFs
c.1_5del5
1 paper
NM_019613.4
p.M1_P5del5
c.1_14del15
2 papers
NM_019613.4
p.C6Y
c.17G>A
1 paper
NM_019613.4
p.N7insFs
c.19dupA
1 paper
NM_019613.4
p.H9insFs
c.27dupC
2 papers
NM_019613.4
p.G23Splc
c.67+1G>T
1 paper
NM_019613.4
p.G23Splc
c.68-1G>C
1 paper
NM_019613.4
p.R34*
c.100C>T
1 paper
NM_019613.4
p.K42insFs
c.125dupA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."