Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.E83Q

METAP2

150 papers

RefSeq Summary

The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitor...

Pfam Domains

Peptidase_M24aa 167–466UCSCMetallopeptidase family M24

Gene Aliases

HGNC Name

methionyl aminopeptidase 2

HGNC Alias Symbols

MNPEP; p67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006838.4
p.E83Q
c.247G>C
Surrounding Variants
1 paper
NM_006838.4
p.E83K
c.247G>A
1 paper
NM_006838.4
p.E83A
c.248A>C
1 paper
NM_006838.4
p.E83D
c.249A>C
1 paper
NM_006838.4
p.E83D
c.249A>T
1 paper
NM_006838.4
p.K79E
c.235A>G
2 papers
NM_006838.4
p.D87Splc
c.259+1G>A
1 paper
NM_006838.4
p.A75delFs
c.223delG
1 paper
NM_006838.4
p.A75_L76del2
c.223_227del6
1 paper
NM_006838.4
p.S74insFs
c.221_222ins5
2 papers
NM_006838.4
p.R73*
c.217A>T
1 paper
NM_006838.4
p.R73delFs
c.218delG
1 paper
NM_006838.4
p.E66K
c.196G>A
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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."