Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.K343E

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
10 papers
NM_005932.4
p.K343E
c.1027A>G
Surrounding Variants
1 paper
NM_005932.4
p.Q349*
c.1045C>T
1 paper
NM_005932.4
p.D335D
c.1005T>C
1 paper
NM_005932.4
p.N350insFs
c.1049dupA
1 paper
NM_005932.4
p.K327N
c.981A>T
1 paper
NM_005932.4
p.M318V
c.952A>G
1 paper
NM_005932.4
p.D357N
c.1069G>A
1 paper
NM_005932.4
p.Y361N
c.1081T>A
1 paper
NM_005932.4
p.Y361C
c.1082A>G
1 paper
NM_005932.4
p.R366C
c.1096C>T
1 paper
NM_005932.4
p.P314L
c.941C>T
1 paper
NM_005932.4
p.A311fs
c.931_932fs
1 paper
NM_005932.4
p.A311delFs
c.932delG
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