Varaico: Literature-Extracted Genetic Variants

Gene:RPP40
Variant:p.G113Splc

RPP40

28 papers

Pfam Domains

Ribonuc_P_40aa 75–346UCSCRibonuclease P 40kDa (Rpp40) subunit

Gene Aliases

HGNC Name

ribonuclease P/MRP subunit p40

HGNC Previous Symbol

RNASEP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006638.4
p.G113Splc
c.337+7C>T
Surrounding Variants
1 paper
NM_006638.4
p.N98K
c.294T>G
1 paper
NM_006638.4
p.N98K
c.294T>A
1 paper
NM_006638.4
p.P133S
c.397C>T
1 paper
NM_006638.4
p.I145Splc
c.433+16G>A
1 paper
NM_006638.4
p.P80fs
c.238_239fs
1 paper
NM_006638.4
p.H75Y
c.223C>T
1 paper
NM_006638.4
p.G50W
c.148G>T
1 paper
NM_006638.4
p.P47fs
c.139_140fs
1 paper
NM_006638.4
p.A182A
c.546T>C
1 paper
NM_006638.4
p.E18G
c.53A>G
1 paper
NM_006638.4
p.Q201H
c.603A>T
1 paper
NM_006638.4
p.Q201H
c.603A>C
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