Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.S54R

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.S54R
c.162C>A
Surrounding Variants
1 paper
NM_005932.4
p.S54G
c.160A>G
1 paper
NM_005932.4
p.G53G
c.159C>T
1 paper
NM_005932.4
p.N48S
c.143A>G
1 paper
NM_005932.4
p.R62H
c.185G>A
1 paper
NM_005932.4
p.G44D
c.131G>A
1 paper
NM_005932.4
p.G44S
c.130G>A
1 paper
NM_005932.4
p.A33G
c.98C>G
1 paper
NM_005932.4
p.I31T
c.92T>C
1 paper
NM_005932.4
p.I31fs
c.91_92fs
3 papers
NM_005932.4
p.A29S
c.85G>T
1 paper
NM_005932.4
p.A29T
c.85G>A
1 paper
NM_005932.4
p.E28A
c.83A>C
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