Varaico: Literature-Extracted Genetic Variants

Gene:WIPI2
Variant:p.R374Q

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.R374Q
c.1121G>A
Surrounding Variants
1 paper
NM_015610.4
p.R374Splc
c.1121+1G>A
1 paper
NM_015610.4
p.K371T
c.1112A>C
1 paper
NM_015610.4
p.G348C
c.1042G>T
1 paper
NM_015610.4
p.V347delFs
c.1040_1041delTG
1 paper
NM_015610.4
p.L345insFs
c.1033_1034dupTT
1 paper
NM_015610.4
p.R344delFs
c.1030delC
1 paper
NM_015610.4
p.Q340_K341delFs
c.1020_1023del4
2 papers
NM_015610.4
p.L336delFs
c.1007_1008delTA
1 paper
NM_015610.4
p.S335A
c.1003T>G
1 paper
NM_015610.4
p.R324delFs
c.970_971delCG
1 paper
NM_015610.4
p.N315_R318delFs
c.944_953del10
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."