Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD1
Variant:p.N312I

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
3 papers
NM_052937.4
p.N312I
c.935A>T
Surrounding Variants
1 paper
NM_052937.4
p.N312N
c.936C>T
2 papers
NM_052937.4
p.D311N
c.931G>A
2 papers
NM_052937.4
p.E310E
c.930G>A
1 paper
NM_052937.4
p.M308insFs
c.922dupA
1 paper
NM_052937.4
p.E316E
c.948G>A
1 paper
NM_052937.4
p.K307_M308ins3
c.921_922ins9
1 paper
NM_052937.4
p.D319G
c.956A>G
1 paper
NM_052937.4
p.H320N
c.958C>A
1 paper
NM_052937.4
p.N321S
c.962A>G
2 papers
NM_052937.4
p.S302R
c.906T>G
2 papers
NM_052937.4
p.S302R
c.906T>A
2 papers
NM_052937.4
p.S302R
c.904A>C
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