Varaico: Literature-Extracted Genetic Variants

Gene:CLPP
Variant:p.D190A

CLPP

97 papers

RefSeq Summary

The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial mat...

Pfam Domains

CLP_proteaseaa 67–248UCSCClp protease

Gene Aliases

HGNC Name

caseinolytic mitochondrial matrix peptidase proteolytic subunit

HGNC Previous Names

ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog; ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli); ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_006012.4
p.D190A
c.569A>C
Surrounding Variants
1 paper
NM_006012.4
p.N207_I208insFs
c.621_622insA
1 paper
NM_006012.4
p.I208fs
c.622_623fs
6 papers
NM_006012.4
p.I208M
c.624C>G
3 papers
NM_006012.4
p.A210T
c.628G>A
1 paper
NM_006012.4
p.L217L
c.649C>T
4 papers
NM_006012.4
p.E221K
c.661G>A
2 papers
NM_006012.4
p.E221*
c.661G>T
1 paper
NM_006012.4
p.H178Y
c.532C>T
1 paper
NM_006012.4
p.P171R
c.512C>G
1 paper
NM_006012.4
p.G165S
c.493G>A
7 papers
NM_006012.4
p.G162S
c.484G>A
13 papers
NM_006012.4
p.C147S
c.440G>C
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."