Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.E201K

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.E201K
c.601G>A
Surrounding Variants
1 paper
NM_006838.4
p.K199_L200del1
c.597_599delGTT
1 paper
NM_006838.4
p.R205C
c.613C>T
3 papers
NM_006838.4
p.N214D
c.640A>G
1 paper
NM_006838.4
p.H231Y
c.691C>T
1 paper
NM_006838.4
p.P234H
c.701C>A
1 paper
NM_006838.4
p.Q243delFs
c.728delA
1 paper
NM_006838.4
p.Q243L
c.728A>T
1 paper
NM_006838.4
p.Y244N
c.730T>A
1 paper
NM_006838.4
p.Y244*
c.732T>G
1 paper
NM_006838.4
p.D245V
c.734A>T
1 paper
NM_006838.4
p.D251A
c.752A>C
2 papers
NM_006838.4
p.C197Splc
c.590+1G>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."