Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.L282delFs

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.L282delFs
c.845delA
Surrounding Variants
1 paper
NM_005932.4
p.L282*
c.845T>G
2 papers
NM_005932.4
p.L282S
c.845T>C
1 paper
NM_005932.4
p.L282*
c.845T>A
1 paper
NM_005932.4
p.E283A
c.848A>C
1 paper
NM_005932.4
p.K280Q
c.838A>C
1 paper
NM_005932.4
p.L286delFs
c.856delG
1 paper
NM_005932.4
p.Q278E
c.832C>G
2 papers
NM_005932.4
p.S288C
c.862A>T
1 paper
NM_005932.4
p.A276V
c.827C>T
1 paper
NM_005932.4
p.Y273S
c.818A>C
1 paper
NM_005932.4
p.G297R
c.889G>C
1 paper
NM_005932.4
p.G297R
c.889G>A
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