Varaico: Literature-Extracted Genetic Variants

Gene:CHMP3
Variant:p.R24*

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.R24*
c.70A>T
Surrounding Variants
1 paper
NM_016079.4
p.R24delFs
c.70delT
1 paper
NM_016079.4
p.R24S
c.72A>T
1 paper
NM_016079.4
p.R24S
c.72A>C
1 paper
NM_016079.4
p.R28S
c.84A>T
1 paper
NM_016079.4
p.R28S
c.84A>C
1 paper
NM_016079.4
p.E18V
c.53A>T
1 paper
NM_016079.4
p.L15_V16Splc
c.46-1G>T
1 paper
NM_016079.4
p.R35S
c.105G>T
1 paper
NM_016079.4
p.R35S
c.105G>C
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