Varaico: Literature-Extracted Genetic Variants

Gene:METAP1D
Variant:p.E201K

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.E201K
c.601G>A
Surrounding Variants
1 paper
NM_199227.3
p.E201*
c.601G>T
1 paper
NM_199227.3
p.N198Y
c.592A>T
1 paper
NM_199227.3
p.V196M
c.586G>A
1 paper
NM_199227.3
p.Y186*
c.558C>A
1 paper
NM_199227.3
p.Y186*
c.558C>G
3 papers
NM_199227.3
p.Y183H
c.547T>C
1 paper
NM_199227.3
p.T180_V181Splc
c.541-1G>A
1 paper
NM_199227.3
p.R222T
c.665G>C
1 paper
NM_199227.3
p.S166Splc
c.497+2T>A
1 paper
NM_199227.3
p.V158V
c.474G>T
1 paper
NM_199227.3
p.S150Y
c.449C>A
1 paper
NM_199227.3
p.V128F
c.382G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."