Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.D161H

CHMP5

482 papers

RefSeq Summary

CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a...

Pfam Domains

Snf7aa 12–197UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 5

HGNC Previous Symbols

C9orf83; SNF7DC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016410.6
p.D161H
c.481G>C
Surrounding Variants
1 paper
NM_016410.6
p.D161A
c.482A>C
2 papers
NM_016410.6
p.E164K
c.490G>A
1 paper
NM_016410.6
p.E157G
c.470A>G
1 paper
NM_016410.6
p.P156L
c.467C>T
1 paper
NM_016410.6
p.E157del1
c.469_470delGAA
2 papers
NM_016410.6
p.E166Q
c.496G>C
1 paper
NM_016410.6
p.E166A
c.497A>C
1 paper
NM_016410.6
p.E166G
c.497A>G
1 paper
NM_016410.6
p.E166V
c.497A>T
1 paper
NM_016410.6
p.E166D
c.498G>C
1 paper
NM_016410.6
p.E166D
c.498G>T
1 paper
NM_016410.6
p.E166Splc
c.496+2T>G
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