Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2A
Variant:p.E158*

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.E158*
c.472G>T
Surrounding Variants
1 paper
NM_014453.4
p.E158_E159insC
c.472_476ins3
1 paper
NM_014453.4
p.E158G
c.473A>G
1 paper
NM_014453.4
p.D148Y
c.442G>T
1 paper
NM_014453.4
p.M142V
c.424A>G
1 paper
NM_014453.4
p.R131Q
c.392G>A
1 paper
NM_014453.4
p.Q166*
c.496C>T
1 paper
NM_014453.4
p.L117V
c.349C>G
1 paper
NM_014453.4
p.E170G
c.509A>G
1 paper
NM_014453.4
p.S174_L175delFs
c.521_525del5
1 paper
NM_014453.4
p.M103I
c.309G>T
1 paper
NM_014453.4
p.M103I
c.309G>C
1 paper
NM_014453.4
p.M103I
c.309G>A
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