Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.A179A

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
2 papers
NM_017952.6
p.A179A
c.537A>G
Surrounding Variants
1 paper
NM_017952.6
p.G180Splc
c.538+4A>G
1 paper
NM_017952.6
p.S169Y
c.506C>A
1 paper
NM_017952.6
p.R164G
c.490A>G
1 paper
NM_017952.6
p.C139fs
c.415_416fs
2 papers
NM_017952.6
p.P138_C139Splc
c.415-2A>G
1 paper
NM_017952.6
p.D131N
c.391G>A
1 paper
NM_017952.6
p.I120T
c.359T>C
1 paper
NM_017952.6
p.R104H
c.311G>A
1 paper
NM_017952.6
p.L192S
c.575T>C
1 paper
NM_017952.6
p.D193Y
c.577G>T
1 paper
NM_017952.6
p.D91A
c.272A>C
1 paper
NM_017952.6
p.Y197H
c.589T>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."