Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.A209D

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
2 papers
NM_015610.4
p.A209D
c.626C>A
Surrounding Variants
1 paper
NM_015610.4
p.F210delFs
c.629delT
1 paper
NM_015610.4
p.F210L
c.628T>C
1 paper
NM_015610.4
p.A206V
c.617C>T
1 paper
NM_015610.4
p.P204T
c.610C>A
1 paper
NM_015610.4
p.D202E
c.606C>G
1 paper
NM_015610.4
p.A218delFs
c.654delC
1 paper
NM_015610.4
p.P199_A200delFs
c.597_598delGG
1 paper
NM_015610.4
p.A220delFs
c.660delT
1 paper
NM_015610.4
p.S221delFs
c.662_663delCG
1 paper
NM_015610.4
p.N196delFs
c.587_588delAC
3 papers
NM_015610.4
p.V184G
c.551T>G
1 paper
NM_015610.4
p.V184delFs
c.551delT
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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."