Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.N257K

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
Selected Variant
2 papers
NM_052937.4
p.N257K
c.771T>A
Surrounding Variants
2 papers
NM_052937.4
p.N257K
c.771T>G
3 papers
NM_052937.4
p.I259T
c.776T>C
1 paper
NM_052937.4
p.L255I
c.763C>A
1 paper
NM_052937.4
p.D261Y
c.781G>T
1 paper
NM_052937.4
p.D261H
c.781G>C
1 paper
NM_052937.4
p.R253H
c.758G>A
9 papers
NM_052937.4
p.R253C
c.757C>T
4 papers
NM_052937.4
p.R252*
c.754C>T
2 papers
NM_052937.4
p.M263I
c.789G>T
1 paper
NM_052937.4
p.M263I
c.789G>C
1 paper
NM_052937.4
p.M263I
c.789G>A
1 paper
NM_052937.4
p.R248L
c.743G>T
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