Varaico: Literature-Extracted Genetic Variants

Gene:PTCD1
Variant:p.E123K

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.E123K
c.367G>A
Surrounding Variants
2 papers
NM_015545.4
p.R117W
c.349C>T
1 paper
NM_015545.4
p.R130*
c.388C>T
5 papers
NM_015545.4
p.R113W
c.337C>T
1 paper
NM_015545.4
p.L112fs
c.334_335fs
1 paper
NM_015545.4
p.N111K
c.333C>G
1 paper
NM_015545.4
p.N111_L112insFs
c.333_334insA
1 paper
NM_015545.4
p.N111K
c.333C>A
5 papers
NM_015545.4
p.R103C
c.307C>T
1 paper
NM_015545.4
p.T78M
c.233C>T
1 paper
NM_015545.4
p.A44A
c.132G>A
1 paper
NM_015545.4
p.C27R
c.79T>C
1 paper
NM_015545.4
p.R12S
c.36G>T
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