Varaico: Literature-Extracted Genetic Variants

Gene:PCMT1

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
1–12 of 29 variants
4 papers
NM_001360452.2
p.V120I
c.358G>A
2 papers
NM_001360452.2
p.K27E
c.79A>G
2 papers
NM_001360452.2
p.A66P
c.196G>C
2 papers
NM_001360452.2
p.G143R
c.427G>A
1 paper
NM_001360452.2
p.A2V
c.5C>T
1 paper
NM_001360452.2
p.S5F
c.14C>T
1 paper
NM_001360452.2
p.E30K
c.88G>A
1 paper
NM_001360452.2
p.R37H
c.110G>A
1 paper
NM_001360452.2
p.A57A
c.171A>T
1 paper
NM_001360452.2
p.G88A
c.263G>C
1 paper
NM_001360452.2
p.R98H
c.293G>A
1 paper
NM_001360452.2
p.G101A
c.302G>C
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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."