Varaico: Literature-Extracted Genetic Variants

Gene:PTCD1
Variant:p.D519N

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.D519N
c.1555G>A
Surrounding Variants
1 paper
NM_015545.4
p.F523L
c.1567T>C
1 paper
NM_015545.4
p.F523L
c.1569T>G
1 paper
NM_015545.4
p.F523L
c.1569T>A
1 paper
NM_015545.4
p.S531R
c.1591A>C
1 paper
NM_015545.4
p.S531R
c.1593C>G
1 paper
NM_015545.4
p.S531R
c.1593C>A
1 paper
NM_015545.4
p.S505F
c.1514C>T
1 paper
NM_015545.4
p.G534A
c.1601G>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.F474L
c.1420T>C
1 paper
NM_015545.4
p.L467F
c.1401G>T
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