Varaico: Literature-Extracted Genetic Variants

Gene:PCMT1
Variant:p.E30K

PCMT1

32 papers

RefSeq Summary

This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspar...

Pfam Domains

PCMTaa 8–221UCSCProtein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

Gene Aliases

HGNC Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001360452.2
p.E30K
c.88G>A
Surrounding Variants
2 papers
NM_001360452.2
p.K27E
c.79A>G
1 paper
NM_001360452.2
p.R37H
c.110G>A
1 paper
NM_001360452.2
p.A57A
c.171A>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."