Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.H436R

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.H436R
c.1307A>G
Surrounding Variants
1 paper
NM_017952.6
p.G442R
c.1324G>A
1 paper
NM_017952.6
p.G442R
c.1324G>C
1 paper
NM_017952.6
p.S424L
c.1271C>T
1 paper
NM_017952.6
p.I448T
c.1343T>C
1 paper
NM_017952.6
p.N455D
c.1363A>G
1 paper
NM_017952.6
p.F462F
c.1386C>T
1 paper
NM_017952.6
p.E469delFs
c.1407delA
1 paper
NM_017952.6
p.S484_A485Splc
c.1453-1G>C
1 paper
NM_017952.6
p.A485D
c.1454C>A
1 paper
NM_017952.6
p.D515Splc
c.1543+1G>A
1 paper
NM_017952.6
p.F415insFs
c.1243dupT
1 paper
NM_017952.6
p.K414fs
c.1240_1241fs
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