Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.L7P

MIPEP

357 papers

RefSeq Summary

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved i...

Pfam Domains

Peptidase_M3aa 254–699UCSCPeptidase family M3

Gene Aliases

HGNC Name

mitochondrial intermediate peptidase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005932.4
p.L7P
c.20T>C
Surrounding Variants
1 paper
NM_005932.4
p.L7Q
c.20T>A
1 paper
NM_005932.4
p.R6K
c.17G>A
1 paper
NM_005932.4
p.G5delFs
c.15delT
1 paper
NM_005932.4
p.R6G
c.16A>G
1 paper
NM_005932.4
p.L10*
c.29T>A
1 paper
NM_005932.4
p.C3*
c.9C>A
1 paper
NM_005932.4
p.G11A
c.32G>C
1 paper
NM_005932.4
p.G11G
c.33A>G
1 paper
NM_005932.4
p.L2insFs
c.5dupT
1 paper
NM_005932.4
p.L2L
c.6G>A
1 paper
NM_005932.4
p.L2L
c.4C>T
1 paper
NM_005932.4
p.M1insFs
c.2_3insT
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