Varaico: Literature-Extracted Genetic Variants

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.F19L

c.57C>G

Surrounding Variants

1 paper

NM_032549.4

p.F19L

c.57C>A

1 paper

NM_032549.4

p.F19L

c.55T>C

3 papers

NM_032549.4

p.A22V

c.65C>T

1 paper

NM_032549.4

p.A22A

c.66G>A

1 paper

NM_032549.4

p.V23G

c.68T>G

1 paper

NM_032549.4

p.V33G

c.98T>G

1 paper

NM_032549.4

p.M1K

c.2T>A

1 paper

NM_032549.4

p.A42A

c.126A>T