Varaico: Literature-Extracted Genetic Variants

Gene:WIPI1
Variant:p.M1_E2delFs

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
Selected Variant
1 paper
NM_017983.7
p.M1_E2delFs
c.1_5del5
Surrounding Variants
1 paper
NM_017983.7
p.M1V
c.1A>G
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
1 paper
NM_017983.7
p.G12R
c.34G>C
1 paper
NM_017983.7
p.G12R
c.34G>A
1 paper
NM_017983.7
p.F20L
c.58T>C
1 paper
NM_017983.7
p.F20L
c.60C>G
1 paper
NM_017983.7
p.F20L
c.60C>A
1 paper
NM_017983.7
p.D25A
c.74A>C
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