Varaico: Literature-Extracted Genetic Variants

Gene:PCMTD2
Variant:p.Y42C

PCMTD2

25 papers

Pfam Domains

PCMTaa 9–223UCSCProtein-L-isoaspartate(D-aspartate) O-methyltransferase (PCMT)

Gene Aliases

HGNC Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2

HGNC Previous Symbol

C20orf36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018257.3
p.Y42C
c.125A>G
Surrounding Variants
1 paper
NM_018257.3
p.R38H
c.113G>A
1 paper
NM_018257.3
p.A50P
c.148G>C
1 paper
NM_018257.3
p.Q31*
c.91C>T
1 paper
NM_018257.3
p.L28L
c.82C>T
1 paper
NM_018257.3
p.E27K
c.79G>A
1 paper
NM_018257.3
p.I15T
c.44T>C
1 paper
NM_018257.3
p.E9K
c.25G>A
1 paper
NM_018257.3
p.G8D
c.23G>A
1 paper
NM_018257.3
p.G3S
c.7G>A
1 paper
NM_018257.3
p.M1I
c.3G>A
1 paper
NM_018257.3
p.M1I
c.3G>C
1 paper
NM_018257.3
p.M1I
c.3G>T
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