Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.D120E

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.D120E
c.360C>G
Surrounding Variants
1 paper
NM_005932.4
p.L121W
c.362T>G
1 paper
NM_005932.4
p.V118E
c.353T>A
1 paper
NM_005932.4
p.E110delins
c.329delinsT
1 paper
NM_005932.4
p.E110Fs
c.328_329delinsTFs
1 paper
NM_005932.4
p.D109E
c.327T>G
1 paper
NM_005932.4
p.D109E
c.327T>A
1 paper
NM_005932.4
p.D109N
c.325G>A
1 paper
NM_005932.4
p.F108L
c.324C>A
1 paper
NM_005932.4
p.I107I
c.321C>A
1 paper
NM_005932.4
p.L106L
c.318G>A
1 paper
NM_005932.4
p.P102S
c.304C>T
1 paper
NM_005932.4
p.G101delFs
c.301delC
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