Varaico: Literature-Extracted Genetic Variants

PNPT1

208 papers

RefSeq Summary

The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and d...

Pfam Domains

RNase_PHaa 52–183UCSC3' exoribonuclease family, domain 1

RNase_PH_Caa 186–251UCSC3' exoribonuclease family, domain 2

PNPaseaa 282–363UCSCPolyribonucleotide nucleotidyltransferase, RNA binding domain

RNase_PHaa 366–501UCSC3' exoribonuclease family, domain 1

KH_1aa 607–666UCSCKH domain

S1aa 675–750UCSCS1 RNA binding domain

Gene Aliases

HGNC Name

polyribonucleotide nucleotidyltransferase 1

HGNC Previous Symbol

DFNB70

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_033109.5

p.R192*

c.574C>T

Surrounding Variants

1 paper

NM_033109.5

p.R192Q

c.575G>A

1 paper

NM_033109.5

p.G189G

c.567G>A

1 paper

NM_033109.5

p.G189R

c.565G>C

1 paper

NM_033109.5

p.G189R

c.565G>A

1 paper

NM_033109.5

p.D197Y

c.589G>T

1 paper

NM_033109.5

p.R206K

c.617G>A

1 paper

NM_033109.5

p.M209K

c.626T>A

1 paper

NM_033109.5

p.S211F

c.632C>T

1 paper

NM_033109.5

p.L214V

c.640T>G

1 paper

NM_033109.5

p.L214L

c.640T>C

1 paper

NM_033109.5

p.L216V

c.646T>G

1 paper

NM_033109.5

p.A219_G220del0

c.655_660del6