Varaico: Literature-Extracted Genetic Variants

Gene:MIPEP
Variant:p.A311fs

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.A311fs
c.931_932fs
Surrounding Variants
1 paper
NM_005932.4
p.A311delFs
c.932delG
1 paper
NM_005932.4
p.P314L
c.941C>T
8 papers
NM_005932.4
p.L306F
c.916C>T
1 paper
NM_005932.4
p.T300A
c.898A>G
1 paper
NM_005932.4
p.Y298C
c.893A>G
1 paper
NM_005932.4
p.G297R
c.889G>C
1 paper
NM_005932.4
p.G297R
c.889G>A
2 papers
NM_005932.4
p.S288C
c.862A>T
1 paper
NM_005932.4
p.L286delFs
c.856delG
1 paper
NM_005932.4
p.E283A
c.848A>C
1 paper
NM_005932.4
p.L282delFs
c.845delA
1 paper
NM_005932.4
p.L282*
c.845T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."