Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.R422H

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.R422H
c.1265G>A
Surrounding Variants
1 paper
NM_006838.4
p.L420M
c.1258C>A
1 paper
NM_006838.4
p.Y444C
c.1331A>G
1 paper
NM_006838.4
p.T455K
c.1364C>A
1 paper
NM_006838.4
p.A456S
c.1366G>T
1 paper
NM_006838.4
p.E459A
c.1376A>C
1 paper
NM_006838.4
p.V472I
c.1414G>A
4 papers
NM_006838.4
p.R395W
c.1183A>T
1 paper
NM_006838.4
p.G390_H391delFs
c.1169_1173del5
1 paper
NM_006838.4
p.V389A
c.1166T>C
1 paper
NM_006838.4
p.D388V
c.1163A>T
1 paper
NM_006838.4
p.K385E
c.1153A>G
1 paper
NM_006838.4
p.H382Y
c.1144C>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."