Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.N242K

PTCD3

64 papers

Pfam Domains

Rib_mS39_PPRaa 68–271UCSCSmall ribosomal subunit protein mS39, PPR
PPR_3aa 277–344UCSCPentatricopeptide repeat domain
PPR_3aa 345–384UCSCPentatricopeptide repeat domain

Gene Aliases

HGNC Name

pentatricopeptide repeat domain 3

HGNC Alias Symbols

FLJ20758; DKFZp666K071; mS39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017952.6
p.N242K
c.726C>G
Surrounding Variants
1 paper
NM_017952.6
p.N242K
c.726C>A
1 paper
NM_017952.6
p.R264Q
c.791G>A
1 paper
NM_017952.6
p.H269Y
c.805C>T
1 paper
NM_017952.6
p.V291V
c.873A>G
2 papers
NM_017952.6
p.T301I
c.902C>T
1 paper
NM_017952.6
p.A304V
c.911C>T
2 papers
NM_017952.6
p.T237delFs
c.710delC
1 paper
NM_017952.6
p.L319_L320insFs
c.957_958insCT
1 paper
NM_017952.6
p.K340R
c.1019A>G
1 paper
NM_017952.6
p.Y197H
c.589T>C
1 paper
NM_017952.6
p.D193Y
c.577G>T
1 paper
NM_017952.6
p.L192S
c.575T>C
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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."