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

1–12 of 116 variants

6 papers

NM_001145860.2

p.R513*

c.1537C>T

6 papers

NM_001145860.2

p.G583E

c.1748G>A

4 papers

NM_001145860.2

p.K522N

c.1566A>C

4 papers

NM_001145860.2

p.K522N

c.1566A>T

4 papers

NM_001145860.2

p.P582S

c.1744C>T

3 papers

NM_001145860.2

p.A4T

c.10G>A

3 papers

NM_001145860.2

p.P525S

c.1573C>T

2 papers

NM_001145860.2

p.V122E

c.365T>A

2 papers

NM_001145860.2

p.S127L

c.380C>T

2 papers

NM_001145860.2

p.R150H

c.449G>A

2 papers

NM_001145860.2

p.A163T

c.487G>A

2 papers

NM_001145860.2

p.T365A

c.1093A>G