Varaico: Literature-Extracted Genetic Variants

Gene:RPP21
Variant:p.D123N

RPP21

10 papers

RefSeq Summary

RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009].

Pfam Domains

Rpr2aa 13–96UCSCRNAse P Rpr2/Rpp21/SNM1 subunit domain

Gene Aliases

HGNC Name

ribonuclease P subunit p21

HGNC Previous Symbol

C6orf135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024839.4
p.D123N
c.367G>A
Surrounding Variants
1 paper
NM_024839.4
p.E115K
c.343G>A
2 papers
NM_024839.4
p.Q85H
c.255G>C
2 papers
NM_024839.4
p.Q85H
c.255G>T
1 paper
NM_024839.4
p.T148_Q149delins
c.444_445delinsGA
3 papers
NM_001199120.3
p.Q157K
c.469C>A
NM_024839.4
p.Q149K
c.445C>A
2 papers
NM_024839.4
p.Q77H
c.231G>C
2 papers
NM_024839.4
p.Q77H
c.231G>T
1 paper
NM_024839.4
p.P4S
c.10C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."