Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.F583fs

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
5 papers
NM_017952.6
p.F583fs
c.1747_1748fs
Surrounding Variants
6 papers
NM_017952.6
p.F583insFs
c.1747_1748insCT
1 paper
NM_017952.6
p.A558V
c.1673C>T
1 paper
NM_017952.6
p.D515D
c.1545T>C
1 paper
NM_017952.6
p.D515Splc
c.1543+1G>A
1 paper
NM_017952.6
p.G597G
c.1791G>A
1 paper
NM_017952.6
p.A485D
c.1454C>A
1 paper
NM_017952.6
p.S484_A485Splc
c.1453-1G>C
1 paper
NM_017952.6
p.E469delFs
c.1407delA
1 paper
NM_017952.6
p.F462F
c.1386C>T
4 papers
NM_017952.6
p.P640A
c.1918C>G
1 paper
NM_017952.6
p.K660Splc
c.1979+145C>T
1 paper
NM_017952.6
p.N455D
c.1363A>G
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