Varaico: Literature-Extracted Genetic Variants

Gene:CHMP5
Variant:p.A119S

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
5 papers
NM_016410.6
p.A119S
c.355G>T
Surrounding Variants
1 paper
NM_016410.6
p.A119T
c.355G>A
1 paper
NM_016410.6
p.A119P
c.355G>C
2 papers
NM_016410.6
p.A119V
c.356C>T
1 paper
NM_016410.6
p.K118M
c.353A>T
1 paper
NM_016410.6
p.K118*
c.352A>T
1 paper
NM_016410.6
p.K121E
c.361A>G
3 papers
NM_016410.6
p.E115V
c.344A>T
1 paper
NM_016410.6
p.V123G
c.368T>G
1 paper
NM_016410.6
p.K124M
c.371A>T
1 paper
NM_016410.6
p.K110K
c.330A>G
1 paper
NM_016410.6
p.I128L
c.382A>C
1 paper
NM_016410.6
p.M109I
c.327G>A
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