Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.F543insFs

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.F543insFs
c.1627_1628insG
Surrounding Variants
1 paper
NM_005932.4
p.Q542*
c.1624C>T
1 paper
NM_005932.4
p.R545K
c.1634G>A
1 paper
NM_005932.4
p.Y547C
c.1640A>G
1 paper
NM_005932.4
p.Y547*
c.1641T>G
1 paper
NM_005932.4
p.Y547*
c.1641T>A
1 paper
NM_005932.4
p.R538*
c.1612C>T
1 paper
NM_005932.4
p.Y537C
c.1610A>G
1 paper
NM_005932.4
p.Q551*
c.1651C>T
1 paper
NM_005932.4
p.G515A
c.1544G>C
1 paper
NM_005932.4
p.V513A
c.1538T>C
5 papers
NM_005932.4
p.H512D
c.1534C>G
1 paper
NM_005932.4
p.R507H
c.1520G>A
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