Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.V184G

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
3 papers
NM_015610.4
p.V184G
c.551T>G
Surrounding Variants
1 paper
NM_015610.4
p.V184delFs
c.551delT
1 paper
NM_015610.4
p.A174E
c.521C>A
1 paper
NM_015610.4
p.C171Y
c.512G>A
1 paper
NM_015610.4
p.D169N
c.505G>A
1 paper
NM_015610.4
p.A163delFs
c.488delC
1 paper
NM_015610.4
p.L161_A163del3
c.481_488del9
1 paper
NM_015610.4
p.G160Splc
c.478+10C>T
1 paper
NM_015610.4
p.A159delFs
c.476delC
1 paper
NM_015610.4
p.H149_T150delFs
c.447_448delTA
1 paper
NM_015610.4
p.L148fs
c.442_443fs
1 paper
NM_015610.4
p.L148_H149delFs
c.442_446del5
1 paper
NM_015610.4
p.K146insFs
c.437dupA
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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."