Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.R21W

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.R21W
c.61C>T
Surrounding Variants
1 paper
NM_005932.4
p.P19P
c.57C>T
1 paper
NM_005932.4
p.G23S
c.67G>A
1 paper
NM_005932.4
p.A16G
c.47C>G
1 paper
NM_005932.4
p.A15delFs
c.44delG
3 papers
NM_005932.4
p.A14T
c.40G>A
1 paper
NM_005932.4
p.E28A
c.83A>C
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.G11G
c.33A>G
1 paper
NM_005932.4
p.G11A
c.32G>C
1 paper
NM_005932.4
p.I31fs
c.91_92fs
1 paper
NM_005932.4
p.I31T
c.92T>C
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