Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.I21_G22insFs

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.I21_G22insFs
c.63_64insC
Surrounding Variants
1 paper
NM_016410.6
p.G22S
c.64G>A
1 paper
NM_016410.6
p.G22insFs
c.64_65insC
1 paper
NM_016410.6
p.I21T
c.62T>C
1 paper
NM_016410.6
p.I21V
c.61A>G
1 paper
NM_016410.6
p.G22G
c.66C>T
20 papers
NM_016410.6
p.P13L
c.38C>T
1 paper
NM_016410.6
p.P13T
c.37C>A
2 papers
NM_016410.6
p.P13S
c.37C>T
1 paper
NM_016410.6
p.A12T
c.34G>A
5 papers
NM_016410.6
p.P10S
c.28C>T
1 paper
NM_016410.6
p.G6G
c.18G>C
1 paper
NM_016410.6
p.G6R
c.16G>A
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