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.E162A

c.485A>C

Surrounding Variants

2 papers

NM_001145860.2

p.R150H

c.449G>A

1 paper

NM_001145860.2

p.R150L

c.449G>T

2 papers

NM_001145860.2

p.S127L

c.380C>T

2 papers

NM_001145860.2

p.V122E

c.365T>A

1 paper

NM_001145860.2

p.R111_A112ins15

c.331_335ins45

1 paper

NM_001145860.2

p.A104Splc

c.311-2A>G

1 paper

NM_001145860.2

p.I102V

c.304A>G

1 paper

NM_001145860.2

p.E92_G93insA

c.274_278ins3

1 paper

NM_001145860.2

p.G86R

c.256G>A

1 paper

NM_001145860.2

p.G86R

c.256G>C

1 paper

NM_001145860.2

p.M80K

c.239T>A

1 paper

NM_001145860.2

p.M80L

c.238A>C