Varaico: Literature-Extracted Genetic Variants

Gene:RPP14
Variant:p.N117delFs

RPP14

81 papers

RefSeq Summary

This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxy...

Pfam Domains

RNase_P_Rpp14aa 9–111UCSCRpp14/Pop5 family

Gene Aliases

HGNC Name

ribonuclease P/MRP subunit p14

HGNC Alias Symbol

P14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007042.6
p.N117delFs
c.349delA
Surrounding Variants
1 paper
NM_007042.6
p.G116_*125delFs
c.348_373del26
1 paper
NM_007042.6
p.R119W
c.355A>T
1 paper
NM_007042.6
p.L114*
c.341T>A
1 paper
NM_007042.6
p.L114*
c.341T>G
1 paper
NM_007042.6
p.R103R
c.309G>T
2 papers
NM_007042.6
p.R103Q
c.308G>A
1 paper
NM_007042.6
p.C100S
c.299G>C
1 paper
NM_007042.6
p.C100S
c.298T>A
1 paper
NM_007042.6
p.V83D
c.248T>A
1 paper
NM_007042.6
p.L75_R76del2
c.223_227del6
1 paper
NM_007042.6
p.E67K
c.199G>A
1 paper
NM_007042.6
p.E67insFs
c.199dupG
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