Varaico: Literature-Extracted Genetic Variants

Gene:IMMP2L
Variant:p.V80Splc

IMMP2L

44 papers

RefSeq Summary

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of...

Pfam Domains

Peptidase_S26aa 12–108UCSCSignal peptidase, peptidase S26
Peptidase_S26aa 102–151UCSCSignal peptidase, peptidase S26

Gene Aliases

HGNC Name

inner mitochondrial membrane peptidase subunit 2

HGNC Previous Symbol

IMMP2L-IT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032549.4
p.V80Splc
c.240-160916C>T
Surrounding Variants
1 paper
NM_032549.4
p.V80Splc
c.240-159668G>A
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