Varaico: Literature-Extracted Genetic Variants

Gene:METAP1D
Variant:p.D81H

METAP1D

27 papers

RefSeq Summary

The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria,...

Pfam Domains

Peptidase_M24aa 95–322UCSCMetallopeptidase family M24

Gene Aliases

HGNC Name

methionyl aminopeptidase type 1D, mitochondrial

HGNC Alias Symbols

MAP1D; Metap1l

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199227.3
p.D81H
c.241G>C
Surrounding Variants
1 paper
NM_199227.3
p.P80fs
c.238_239fs
1 paper
NM_199227.3
p.Q93L
c.278A>T
1 paper
NM_199227.3
p.L97H
c.290T>A
1 paper
NM_199227.3
p.G112fs
c.334_335fs
1 paper
NM_199227.3
p.V128F
c.382G>T
1 paper
NM_199227.3
p.S150Y
c.449C>A
1 paper
NM_199227.3
p.V158V
c.474G>T
1 paper
NM_199227.3
p.S166Splc
c.497+2T>A
1 paper
NM_199227.3
p.S60S
c.180A>G
1 paper
NM_199227.3
p.R44K
c.131G>A
1 paper
NM_199227.3
p.R43Q
c.128G>A
1 paper
NM_199227.3
p.R43W
c.127C>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."