Varaico: Literature-Extracted Genetic Variants

Gene:PTCD2
Variant:p.E146K

PTCD2

29 papers

Pfam Domains

MRP-S27aa 31–360UCSCMitochondrial 28S ribosomal protein S27

Gene Aliases

HGNC Name

pentatricopeptide repeat domain 2

HGNC Alias Symbol

FLJ12598

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024754.5
p.E146K
c.436G>A
Surrounding Variants
1 paper
NM_024754.5
p.L145V
c.433C>G
1 paper
NM_024754.5
p.P134P
c.402G>A
1 paper
NM_024754.5
p.K131E
c.391A>G
1 paper
NM_024754.5
p.E121D
c.363G>T
1 paper
NM_024754.5
p.L158insFs
c.472_473insC
1 paper
NM_024754.5
p.F168F
c.504C>T
1 paper
NM_024754.5
p.L188L
c.564G>A
1 paper
NM_024754.5
p.S104Y
c.311C>A
1 paper
NM_024754.5
p.T75M
c.224C>T
1 paper
NM_024754.5
p.L47L
c.141A>G
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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."