Varaico: Literature-Extracted Genetic Variants

Gene:CHMP1B

CHMP1B

19 papers

RefSeq Summary

CHMP1B 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 7–176UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 1B

HGNC Alias Symbols

CHMP1.5; C18orf2; Vps46B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
1 paper
NM_020412.5
p.M1R
c.2T>G
1 paper
NM_020412.5
p.L8Q
c.23T>A
1 paper
NM_020412.5
p.K33*
c.97A>T
1 paper
NM_020412.5
p.K42R
c.125A>G
1 paper
NM_020412.5
p.K59R
c.176A>G
1 paper
NM_020412.5
p.R78S
c.234G>C
1 paper
NM_020412.5
p.R78S
c.234G>T
1 paper
NM_020412.5
p.K87R
c.260A>G
1 paper
NM_020412.5
p.K90T
c.269A>C
1 paper
NM_020412.5
p.K90R
c.269A>G
1 paper
NM_020412.5
p.D134E
c.402C>A
1 paper
NM_020412.5
p.D134E
c.402C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."