Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.E9insFs

WIPI2

73 papers

RefSeq Summary

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversib...

Pfam Domains

PROPPINaa 38–376UCSCPROPPIN

Gene Aliases

HGNC Name

WD repeat domain, phosphoinositide interacting 2

HGNC Alias Symbols

ATG21; CGI-50; FLJ12979; FLJ14217; FLJ42984; DKFZP434J154; DKFZp686P02188; ATG18B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015610.4
p.E9insFs
c.27dupG
Surrounding Variants
1 paper
NM_015610.4
p.S7delFs
c.21delC
1 paper
NM_015610.4
p.Q6Q
c.18G>A
1 paper
NM_015610.4
p.S7insFs
c.19dupA
1 paper
NM_015610.4
p.G13A
c.38G>C
1 paper
NM_015610.4
p.S5_S7insFs
c.14_20dup7
1 paper
NM_015610.4
p.M1I
c.3G>A
1 paper
NM_015610.4
p.M1I
c.3G>C
1 paper
NM_015610.4
p.M1I
c.3G>T
1 paper
NM_015610.4
p.M1K
c.2T>A
1 paper
NM_015610.4
p.M1V
c.1A>G
1 paper
NM_015610.4
p.M1_N2delFs
c.1_5del5
1 paper
NM_015610.4
p.M1_S5del5
c.1_14del15
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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."