Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.Y94C

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.Y94C
c.281A>G
Surrounding Variants
1 paper
NM_016410.6
p.Y94F
c.281A>T
1 paper
NM_016410.6
p.T95A
c.283A>G
2 papers
NM_016410.6
p.T95S
c.283A>T
2 papers
NM_016410.6
p.T95N
c.284C>A
1 paper
NM_016410.6
p.T95S
c.284C>G
143 papers
NM_016410.6
p.T95I
c.284C>T
1 paper
NM_016410.6
p.A92T
c.274G>A
1 paper
NM_016410.6
p.S98C
c.293C>G
15 papers
NM_016410.6
p.S98F
c.293C>T
1 paper
NM_016410.6
p.E90K
c.268G>A
1 paper
NM_016410.6
p.N88K
c.264C>A
1 paper
NM_016410.6
p.N88K
c.264C>G
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