Varaico: Literature-Extracted Genetic Variants

Gene:CHMP3
Variant:p.T173I

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
3 papers
NM_016079.4
p.T173I
c.518C>T
Surrounding Variants
1 paper
NM_016079.4
p.E155*
c.463G>T
1 paper
NM_016079.4
p.E208_L210del3
c.622_629del9
1 paper
NM_016079.4
p.A125S
c.373G>T
1 paper
NM_016079.4
p.E122D
c.366G>T
1 paper
NM_016079.4
p.E122D
c.366G>C
1 paper
NM_016079.4
p.V100M
c.298G>A
1 paper
NM_016079.4
p.R99*
c.295C>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."