Varaico: Literature-Extracted Genetic Variants

Gene:IMMP1L
Variant:p.Y107_V108Splc

IMMP1L

15 papers

RefSeq Summary

The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence ...

Pfam Domains

Peptidase_S26aa 9–100UCSCSignal peptidase, peptidase S26
Peptidase_S26aa 94–146UCSCSignal peptidase, peptidase S26

Gene Aliases

HGNC Name

inner mitochondrial membrane peptidase subunit 1

HGNC Previous Symbol

IMMP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304274.2
p.Y107_V108Splc
c.322-1787T>C
Surrounding Variants
1 paper
NM_001304274.2
p.P109S
c.325C>T
1 paper
NM_001304274.2
p.M110L
c.328A>T
1 paper
NM_001304274.2
p.M110L
c.328A>C
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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."