Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2A
Variant:p.S190delFs

CHMP2A

44 papers

RefSeq Summary

CHMP2A 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), ...

Pfam Domains

Snf7aa 17–187UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 2A

HGNC Alias Symbols

BC-2; CHMP2; VPS2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014453.4
p.S190delFs
c.570delA
Surrounding Variants
1 paper
NM_014453.4
p.S188L
c.563C>T
1 paper
NM_014453.4
p.G195E
c.584G>A
2 papers
NM_014453.4
p.K197insFs
c.591dupA
1 paper
NM_014453.4
p.A198T
c.592G>A
1 paper
NM_014453.4
p.P183L
c.548C>T
1 paper
NM_014453.4
p.L182I
c.544C>A
1 paper
NM_014453.4
p.A204V
c.611C>T
1 paper
NM_014453.4
p.A208V
c.623C>T
1 paper
NM_014453.4
p.L216F
c.646C>T
1 paper
NM_014453.4
p.S174_L175delFs
c.521_525del5
1 paper
NM_014453.4
p.E170G
c.509A>G
1 paper
NM_014453.4
p.Q166*
c.496C>T
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