Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.V249M

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
6 papers
NM_015610.4
p.V249M
c.745G>A
Surrounding Variants
1 paper
NM_015610.4
p.S250del1
c.748_749delAGC
1 paper
NM_015610.4
p.I251_C252del1
c.752_754delTCT
1 paper
NM_015610.4
p.A255T
c.763G>A
1 paper
NM_015610.4
p.D259delFs
c.777delC
1 paper
NM_015610.4
p.F262S
c.785T>C
1 paper
NM_015610.4
p.A265delFs
c.795delC
1 paper
NM_015610.4
p.K283Splc
c.848+124G>T
1 paper
NM_015610.4
p.P285S
c.853C>T
1 paper
NM_015610.4
p.S304delFs
c.912delC
2 papers
NM_015610.4
p.Y305C
c.914A>G
1 paper
NM_015610.4
p.P307delFs
c.921delT
1 paper
NM_015610.4
p.F314C
c.941T>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."