Varaico: Literature-Extracted Genetic Variants

Gene:WIPI1

WIPI1

57 papers

RefSeq Summary

This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a...

Pfam Domains

PROPPINaa 1–278UCSCPROPPIN

Gene Aliases

HGNC Name

WD repeat domain, phosphoinositide interacting 1

HGNC Alias Symbols

FLJ10055; WIPI49; ATG18; ATG18A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
5 papers
NM_017983.7
p.T31I
c.92C>T
2 papers
NM_017983.7
p.G313R
c.937G>C
2 papers
NM_017983.7
p.G313R
c.937G>A
2 papers
NM_017983.7
p.R328Q
c.983G>A
2 papers
NM_017983.7
p.G336delFs
c.1007_1008delTC
1 paper
NM_017983.7
p.M1V
c.1A>G
1 paper
NM_017983.7
p.M1_E2delFs
c.1_5del5
1 paper
NM_017983.7
p.A6T
c.16G>A
1 paper
NM_017983.7
p.M1_A5del5
c.1_14del15
1 paper
NM_017983.7
p.D7insFs
c.19dupG
1 paper
NM_017983.7
p.P9S
c.25C>T
1 paper
NM_017983.7
p.P9insFs
c.27dupC
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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."