Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.H78R

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
2 papers
NM_005932.4
p.H78R
c.233A>G
Surrounding Variants
2 papers
NM_005932.4
p.F77L
c.231T>A
1 paper
NM_005932.4
p.A80T
c.238G>A
3 papers
NM_005932.4
p.A73V
c.218C>T
1 paper
NM_005932.4
p.L85S
c.254T>C
6 papers
NM_005932.4
p.L71Q
c.212T>A
1 paper
NM_005932.4
p.E70K
c.208G>A
1 paper
NM_005932.4
p.G67R
c.199G>A
1 paper
NM_005932.4
p.G64R
c.190G>C
1 paper
NM_005932.4
p.D93G
c.278A>G
1 paper
NM_005932.4
p.P100P
c.300T>C
1 paper
NM_005932.4
p.P102S
c.304C>T
1 paper
NM_005932.4
p.G101delFs
c.301delC
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