Varaico: Literature-Extracted Genetic Variants

Gene:PCMT1
Variant:p.R178K

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.R178K
c.533G>A
Surrounding Variants
1 paper
NM_001360452.2
p.I180L
c.538A>C
1 paper
NM_001360452.2
p.I180L
c.538A>T
1 paper
NM_001360452.2
p.Q172K
c.514C>A
1 paper
NM_001360452.2
p.L192L
c.576G>A
1 paper
NM_001360452.2
p.E193K
c.577G>A
1 paper
NM_001360452.2
p.Q199*
c.595C>T
1 paper
NM_001360452.2
p.G201S
c.601G>A
1 paper
NM_001360452.2
p.M205L
c.613A>T
1 paper
NM_001360452.2
p.A168V
c.503C>T
1 paper
NM_001360452.2
p.V165A
c.494T>C
2 papers
NM_001360452.2
p.G143R
c.427G>A
4 papers
NM_001360452.2
p.V120I
c.358G>A
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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."