Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.H149_T150delFs

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.H149_T150delFs
c.447_448delTA
Surrounding Variants
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
1 paper
NM_015610.4
p.I139V
c.415A>G
1 paper
NM_015610.4
p.A159delFs
c.476delC
1 paper
NM_015610.4
p.Y138_H140del0
c.414_419del6
1 paper
NM_015610.4
p.Y138insFs
c.412_413insT
1 paper
NM_015610.4
p.L137insFs
c.411dupG
1 paper
NM_015610.4
p.S136A
c.406T>G
1 paper
NM_015610.4
p.E135_L137delFs
c.405_409del5
1 paper
NM_015610.4
p.G160Splc
c.478+10C>T
1 paper
NM_015610.4
p.E134D
c.402G>C
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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."