Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4A
Variant:p.P200R

CHMP4A

17 papers

RefSeq Summary

CHMP4A 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 21–199UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 4A

HGNC Previous Symbol

C14orf123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014169.5
p.P200R
c.599C>G
Surrounding Variants
1 paper
NM_014169.5
p.D154V
c.461A>T
2 papers
NM_014169.5
p.Q136*
c.406C>T
1 paper
NM_014169.5
p.T97insFs
c.290_291insG
1 paper
NM_014169.5
p.Q89*
c.265C>T
1 paper
NM_014169.5
p.K69N
c.207G>T
1 paper
NM_014169.5
p.K69N
c.207G>C
1 paper
NM_014169.5
p.A22delFs
c.65delG
1 paper
NM_014169.5
p.G11Splc
c.32-1G>T
1 paper
NM_014169.5
p.G11Splc
c.32-110G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."