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

1 paper

NM_033109.5

p.R464R

c.1390C>A

Surrounding Variants

1 paper

NM_033109.5

p.R464*

c.1390C>T

3 papers

NM_033109.5

p.P467S

c.1399C>T

3 papers

NM_033109.5

p.P467H

c.1400C>A

1 paper

NM_033109.5

p.L458F

c.1374G>T

1 paper

NM_033109.5

p.L458F

c.1374G>C

1 paper

NM_033109.5

p.V472A

c.1415T>C

1 paper

NM_033109.5

p.A454V

c.1361C>T

2 papers

NM_033109.5

p.A454G

c.1361C>G

1 paper

NM_033109.5

p.L453F

c.1357C>T

17 papers

NM_033109.5

p.E475G

c.1424A>G

1 paper

NM_033109.5

p.E475E

c.1425A>G

1 paper

NM_033109.5

p.E478Q

c.1432G>C