Varaico: Literature-Extracted Genetic Variants

Gene:VMP1
Variant:p.G120E

VMP1

46 papers

RefSeq Summary

This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even unde...

Pfam Domains

VMP1_Caa 367–399UCSCVacuole membrane protein 1 C-terminal helical domain

Gene Aliases

HGNC Name

vacuole membrane protein 1

HGNC Previous Symbol

TMEM49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030938.5
p.G120E
c.359G>A
Surrounding Variants
1 paper
NM_030938.5
p.G118D
c.353G>A
1 paper
NM_030938.5
p.T129P
c.385A>C
1 paper
NM_030938.5
p.Q109fs
c.325_326fs
1 paper
NM_030938.5
p.R105H
c.314G>A
1 paper
NM_030938.5
p.R75H
c.224G>A
1 paper
NM_030938.5
p.L51V
c.151C>G
1 paper
NM_030938.5
p.I44T
c.131T>C
1 paper
NM_030938.5
p.D26Splc
c.76+10G>C
1 paper
NM_030938.5
p.F24ins10
c.70_71ins30
1 paper
NM_030938.5
p.H20L
c.59A>T
1 paper
NM_030938.5
p.K17R
c.50A>G
1 paper
NM_030938.5
p.R12C
c.34C>T
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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."