Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.E136D

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
4 papers
NM_016410.6
p.E136D
c.408G>T
Surrounding Variants
4 papers
NM_016410.6
p.E136D
c.408G>C
1 paper
NM_016410.6
p.Q134R
c.401A>G
1 paper
NM_016410.6
p.M139R
c.416T>G
1 paper
NM_016410.6
p.E140V
c.419A>T
1 paper
NM_016410.6
p.A142_I145del4
c.424_434del12
1 paper
NM_016410.6
p.A142V
c.425C>T
2 papers
NM_016410.6
p.Q146H
c.438A>C
2 papers
NM_016410.6
p.Q146H
c.438A>T
1 paper
NM_016410.6
p.E147E
c.441A>G
1 paper
NM_016410.6
p.L149L
c.447G>A
1 paper
NM_016410.6
p.L149L
c.447G>T
1 paper
NM_016410.6
p.P156L
c.467C>T
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