Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.V70I

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
3 papers
NM_017952.6
p.V70I
c.208G>A
Surrounding Variants
1 paper
NM_017952.6
p.W65*
c.195G>A
1 paper
NM_017952.6
p.R80T
c.239G>C
1 paper
NM_017952.6
p.R80_D81Splc
c.240+119G>A
1 paper
NM_017952.6
p.W65*
c.195G>A
1 paper
NM_017952.6
p.W65*
c.194G>A
1 paper
NM_017952.6
p.V51V
c.153A>T
1 paper
NM_017952.6
p.A31P
c.91G>C
1 paper
NM_017952.6
p.E29V
c.86A>T
1 paper
NM_017952.6
p.G17V
c.50G>T
1 paper
NM_017952.6
p.R13C
c.37C>T
1 paper
NM_017952.6
p.G11C
c.31G>T
1 paper
NM_017952.6
p.W9delFs
c.27delG
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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."