Varaico: Literature-Extracted Genetic Variants

Gene:PTCD1
Variant:p.L396F

PTCD1

51 papers

RefSeq Summary

This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decrease...

Pfam Domains

PPRaa 174–204UCSCPPR repeat
PPRaa 248–278UCSCPPR repeat

Gene Aliases

HGNC Name

pentatricopeptide repeat domain 1

HGNC Alias Symbol

KIAA0632

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015545.4
p.L396F
c.1186C>T
Surrounding Variants
1 paper
NM_015545.4
p.S393F
c.1178C>T
1 paper
NM_015545.4
p.A404V
c.1211C>T
2 papers
NM_015545.4
p.A428T
c.1282G>A
1 paper
NM_015545.4
p.R362fs
c.1084_1085fs
1 paper
NM_015545.4
p.R362insFs
c.1084_1085ins7
1 paper
NM_015545.4
p.G333_L334insA
c.997_1001ins3
1 paper
NM_015545.4
p.L467F
c.1401G>T
1 paper
NM_015545.4
p.L467F
c.1401G>C
1 paper
NM_015545.4
p.F474L
c.1420T>C
1 paper
NM_015545.4
p.F474L
c.1422C>G
1 paper
NM_015545.4
p.F474L
c.1422C>A
1 paper
NM_015545.4
p.S505F
c.1514C>T
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