Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.N81S

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
2 papers
NM_016410.6
p.N81S
c.242A>G
Surrounding Variants
81 papers
NM_016410.6
p.D80A
c.239A>C
9 papers
NM_016410.6
p.D80G
c.239A>G
9 papers
NM_016410.6
p.D80Y
c.238G>T
2 papers
NM_016410.6
p.Q77E
c.229C>G
1 paper
NM_016410.6
p.E76D
c.228G>C
1 paper
NM_016410.6
p.Y75N
c.223T>A
5 papers
NM_016410.6
p.N88Y
c.262A>T
2 papers
NM_016410.6
p.N88S
c.263A>G
1 paper
NM_016410.6
p.N88K
c.264C>A
1 paper
NM_016410.6
p.N88K
c.264C>G
1 paper
NM_016410.6
p.E90K
c.268G>A
1 paper
NM_016410.6
p.A92T
c.274G>A
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