Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.V118L

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.V118L
c.352G>C
Surrounding Variants
1 paper
NM_006838.4
p.V118delins
c.353_354delinsAA
1 paper
NM_006838.4
p.V118Fs
c.354delinsAAFs
1 paper
NM_006838.4
p.I120V
c.358A>G
1 paper
NM_006838.4
p.L123R
c.368T>G
1 paper
NM_006838.4
p.V111V
c.333T>A
3 papers
NM_006838.4
p.P130S
c.388C>T
1 paper
NM_006838.4
p.Y137N
c.409T>A
1 paper
NM_006838.4
p.T140R
c.419C>G
1 paper
NM_006838.4
p.D142A
c.425A>C
1 paper
NM_006838.4
p.P109Splc
c.325+8T>C
2 papers
NM_006838.4
p.P109Splc
c.325+1G>A
1 paper
NM_006838.4
p.K98R
c.293A>G
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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."