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.E525Q

c.1573G>C

Surrounding Variants

1 paper

NM_033109.5

p.Y527ins1

c.1579_1580insGAT

1 paper

NM_033109.5

p.Y527*

c.1581T>G

1 paper

NM_033109.5

p.Y527*

c.1581T>A

1 paper

NM_033109.5

p.K521T

c.1562A>C

1 paper

NM_033109.5

p.P519T

c.1555C>A

5 papers

NM_033109.5

p.T531R

c.1592C>G

1 paper

NM_033109.5

p.L534F

c.1602G>T

1 paper

NM_033109.5

p.L534F

c.1602G>C

7 papers

NM_033109.5

p.A510P

c.1528G>C

3 papers

NM_033109.5

p.V509I

c.1525G>A

3 papers

NM_033109.5

p.A507G

c.1520C>G

19 papers

NM_033109.5

p.A507S

c.1519G>T