Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.K181E

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.K181E
c.541A>G
Surrounding Variants
2 papers
NM_006838.4
p.K181R
c.542A>G
1 paper
NM_006838.4
p.M184_T192delFs
c.552_574del23
1 paper
NM_006838.4
p.I187F
c.559A>T
1 paper
NM_006838.4
p.A175_H176ins15
c.523_527ins45
1 paper
NM_006838.4
p.E174_A175insT
c.520_524ins3
1 paper
NM_006838.4
p.R170Q
c.509G>A
1 paper
NM_006838.4
p.T192ins2
c.574_575ins6
2 papers
NM_006838.4
p.M193I
c.579G>A
1 paper
NM_006838.4
p.I165T
c.494T>C
2 papers
NM_006838.4
p.C197Splc
c.590+1G>A
1 paper
NM_006838.4
p.Q160L
c.479A>T
2 papers
NM_006838.4
p.A146V
c.437C>T
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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."