Varaico: Literature-Extracted Genetic Variants

Gene:RPP14
Variant:p.M1K

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
1 paper
NM_007042.6
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_007042.6
p.M1T
c.2T>C
1 paper
NM_007042.6
p.M1insFs
c.2dupT
1 paper
NM_007042.6
p.M1_P2delFs
c.1_4del4
1 paper
NM_007042.6
p.M1_P4del4
c.1_11del12
1 paper
NM_007042.6
p.A3_P4insFs
c.9_10insGT
1 paper
NM_007042.6
p.A5V
c.14C>T
1 paper
NM_007042.6
p.V12_N15delFs
c.35_44del10
1 paper
NM_007042.6
p.V24A
c.71T>C
1 paper
NM_007042.6
p.C25_L26delFs
c.75_76delCC
2 papers
NM_007042.6
p.L26Splc
c.77+1G>A
1 paper
NM_007042.6
p.L35_L44del10
c.103_131del30
1 paper
NM_007042.6
p.L35R
c.104T>G
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