Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1

PCMTD1

83 papers

Pfam Domains

PCMTaa 9–224UCSCProtein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)
PCMTaa 9–224UCSCProtein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

Gene Aliases

HGNC Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

HGNC Alias Symbol

FLJ10883

Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
9 papers
NM_052937.4
p.R253C
c.757C>T
6 papers
NM_052937.4
p.R248H
c.743G>A
4 papers
NM_052937.4
p.R252*
c.754C>T
4 papers
NM_052937.4
p.V281A
c.842T>C
3 papers
NM_052937.4
p.I259T
c.776T>C
3 papers
NM_052937.4
p.V289I
c.865G>A
3 papers
NM_052937.4
p.N312I
c.935A>T
3 papers
NM_052937.4
p.L343F
c.1027C>T
2 papers
NM_052937.4
p.R162Q
c.485G>A
2 papers
NM_052937.4
p.N210T
c.629A>C
2 papers
NM_052937.4
p.N257K
c.771T>G
2 papers
NM_052937.4
p.N257K
c.771T>A
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."