Varaico: Literature-Extracted Genetic Variants

Gene:CHMP3
Variant:p.E42A

CHMP3

27 papers

RefSeq Summary

This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins,...

Pfam Domains

Snf7aa 18–188UCSCSnf7
Snf7aa 18–188UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 3

HGNC Previous Symbol

VPS24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016079.4
p.E42A
c.125A>C
Surrounding Variants
1 paper
NM_016079.4
p.K49*
c.145A>T
1 paper
NM_016079.4
p.K57M
c.170A>T
1 paper
NM_016079.4
p.V59D
c.176T>A
2 papers
NM_016079.4
p.V62D
c.185T>A
1 paper
NM_016079.4
p.A64D
c.191C>A
1 paper
NM_016079.4
p.S70del1
c.208_210delTGA
1 paper
NM_016079.4
p.A79E
c.236C>A
1 paper
NM_016079.4
p.K92N
c.276G>T
1 paper
NM_016079.4
p.K92N
c.276G>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."