Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5

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
1–12 of 142 variants
143 papers
NM_016410.6
p.T95I
c.284C>T
81 papers
NM_016410.6
p.D80A
c.239A>C
20 papers
NM_016410.6
p.P13L
c.38C>T
15 papers
NM_016410.6
p.S98F
c.293C>T
9 papers
NM_016410.6
p.D80Y
c.238G>T
9 papers
NM_016410.6
p.D80G
c.239A>G
6 papers
NM_016410.6
p.L4H
c.11T>A
5 papers
NM_016410.6
p.P10S
c.28C>T
5 papers
NM_016410.6
p.N88Y
c.262A>T
5 papers
NM_016410.6
p.A119S
c.355G>T
4 papers
NM_016410.6
p.E136D
c.408G>C
4 papers
NM_016410.6
p.E136D
c.408G>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."