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

4 papers

NM_001145860.2

p.K522N

c.1566A>C

Surrounding Variants

4 papers

NM_001145860.2

p.K522N

c.1566A>T

3 papers

NM_001145860.2

p.P525S

c.1573C>T

1 paper

NM_001145860.2

p.I514T

c.1541T>C

6 papers

NM_001145860.2

p.R513*

c.1537C>T

1 paper

NM_001145860.2

p.D511Y

c.1531G>T

1 paper

NM_001145860.2

p.C481S

c.1442G>C

1 paper

NM_001145860.2

p.C481S

c.1441T>A

1 paper

NM_001145860.2

p.C471*

c.1413T>A

1 paper

NM_001145860.2

p.C471_D475delFs

c.1413_1423del11

1 paper

NM_001145860.2

p.E460A

c.1379A>C

1 paper

NM_001145860.2

p.T454_V455Splc

c.1362+1G>A

1 paper

NM_001145860.2

p.R433W

c.1297C>T