Varaico: Literature-Extracted Genetic Variants

Gene:CHMP6
Variant:p.D141N

CHMP6

26 papers

RefSeq Summary

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for tran...

Pfam Domains

Snf7aa 18–178UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 6

HGNC Alias Symbols

FLJ11749; VPS20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024591.5
p.D141N
c.421G>A
Surrounding Variants
1 paper
NM_024591.5
p.E159fs
c.475_476fs
1 paper
NM_024591.5
p.Q165_E166Splc
c.495+2T>C
1 paper
NM_024591.5
p.Q165_E166Splc
c.495+34C>G
1 paper
NM_024591.5
p.E135G
c.404A>G
1 paper
NM_024591.5
p.E129K
c.385G>A
1 paper
NM_024591.5
p.A195A
c.585G>A
1 paper
NM_024591.5
p.S201L
c.602C>T
1 paper
NM_024591.5
p.S201S
c.603G>A
1 paper
NM_024591.5
p.A46T
c.136G>A
2 papers
NM_024591.5
p.R45H
c.134G>A
1 paper
NM_024591.5
p.L21_Q22Splc
c.64-1G>T
1 paper
NM_024591.5
p.K9R
c.26A>G
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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."