Varaico: Literature-Extracted Genetic Variants

Gene:RPP40
Variant:p.Q201H

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.Q201H
c.603A>C
Surrounding Variants
1 paper
NM_006638.4
p.Q201H
c.603A>T
1 paper
NM_006638.4
p.E204fs
c.610_611fs
1 paper
NM_006638.4
p.S212R
c.634A>C
1 paper
NM_006638.4
p.S212R
c.636C>G
1 paper
NM_006638.4
p.S212R
c.636C>A
1 paper
NM_006638.4
p.T213M
c.638C>T
2 papers
NM_006638.4
p.S224N
c.671G>A
1 paper
NM_006638.4
p.N258D
c.772A>G
1 paper
NM_006638.4
p.L306F
c.918A>T
1 paper
NM_006638.4
p.L306F
c.918A>C
2 papers
NM_006638.4
p.V314I
c.940G>A
1 paper
NM_006638.4
p.G316A
c.947G>C
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