Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2A
Variant:p.G54delFs

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.G54delFs
c.161delC
Surrounding Variants
1 paper
NM_014453.4
p.G54fs
c.160_161fs
1 paper
NM_014453.4
p.Q53fs
c.157_158fs
1 paper
NM_014453.4
p.Q53insFs
c.158_159insC
1 paper
NM_014453.4
p.K41N
c.123G>T
1 paper
NM_014453.4
p.D30A
c.89A>C
1 paper
NM_014453.4
p.R27W
c.79C>T
1 paper
NM_014453.4
p.I61V
c.181A>G
1 paper
NM_014453.4
p.D65A
c.194A>C
1 paper
NM_014453.4
p.T69S
c.205A>T
1 paper
NM_014453.4
p.T69S
c.206C>G
1 paper
NM_014453.4
p.V73V
c.219G>A
1 paper
NM_014453.4
p.R74C
c.220C>T
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