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.A393V

c.1178C>T

Surrounding Variants

1 paper

NM_001145860.2

p.N392T

c.1175A>C

1 paper

NM_001145860.2

p.G390R

c.1168G>A

1 paper

NM_001145860.2

p.G390R

c.1168G>C

1 paper

NM_001145860.2

p.R405G

c.1213A>G

1 paper

NM_001145860.2

p.G381D

c.1142G>A

1 paper

NM_001145860.2

p.G419D

c.1256G>A

2 papers

NM_001145860.2

p.T365A

c.1093A>G

1 paper

NM_001145860.2

p.R433W

c.1297C>T

1 paper

NM_001145860.2

p.T454_V455Splc

c.1362+1G>A

1 paper

NM_001145860.2

p.P318L

c.953C>T

1 paper

NM_001145860.2

p.W312*

c.936G>A

1 paper

NM_001145860.2

p.W312*

c.935G>A