Varaico: Literature-Extracted Genetic Variants

POP1

108 papers

RefSeq Summary

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The en...

Pfam Domains

POP1_Naa 107–191UCSCRibonucleases P/MRP protein subunit POP1, N-terminal

POP1_Naa 168–258UCSCRibonucleases P/MRP protein subunit POP1, N-terminal

POPLDaa 617–708UCSCPOPLD (NUC188) domain

POP1_Caa 855–1024UCSCPOP1 C-terminal domain

Gene Aliases

HGNC Name

POP1 ribonuclease P/MRP subunit

HGNC Previous Names

POP1 homolog, ribonuclease P/MRP subunit; processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145860.2

p.F42F

c.126C>T

Surrounding Variants

1 paper

NM_001145860.2

p.Q43Fs

c.127delinsGTGFs

1 paper

NM_001145860.2

p.Q45E

c.133C>G

1 paper

NM_001145860.2

p.E39G

c.116A>G

1 paper

NM_001145860.2

p.G37_G38ins5

c.111_112ins15

1 paper

NM_001145860.2

p.G31insFs

c.92_93insA

1 paper

NM_001145860.2

p.G25D

c.74G>A

3 papers

NM_001145860.2

p.A4T

c.10G>A

1 paper

NM_001145860.2

p.M1L

c.1A>T

1 paper

NM_001145860.2

p.Q58*

c.172C>T

1 paper

NM_001145860.2

p.T59T

c.177C>T

1 paper

NM_001145860.2

p.V61I

c.181G>A

1 paper

NM_001145860.2

p.L66L

c.196C>T