Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.N210T

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.N210T
c.629A>C
Surrounding Variants
1 paper
NM_052937.4
p.A213D
c.638C>A
1 paper
NM_052937.4
p.D226V
c.677A>T
1 paper
NM_052937.4
p.I191fs
c.571_572fs
1 paper
NM_052937.4
p.I191insFs
c.571_572insT
1 paper
NM_052937.4
p.P190fs
c.568_569fs
1 paper
NM_052937.4
p.L187F
c.561A>T
1 paper
NM_052937.4
p.L187F
c.561A>C
1 paper
NM_052937.4
p.L187_V188ins4
c.559_563ins12
1 paper
NM_052937.4
p.G185D
c.554G>A
1 paper
NM_052937.4
p.V169V
c.507G>A
1 paper
NM_052937.4
p.I163insFs
c.487_488ins10
2 papers
NM_052937.4
p.R162Q
c.485G>A
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