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.P140L

c.419C>T

Surrounding Variants

1 paper

NM_033109.5

p.P140S

c.418C>T

3 papers

NM_033109.5

p.P140delFs

c.420delC

1 paper

NM_033109.5

p.L141fs

c.421_422fs

1 paper

NM_033109.5

p.I138V

c.412A>G

1 paper

NM_033109.5

p.P143S

c.427C>T

1 paper

NM_033109.5

p.P143L

c.428C>T

8 papers

NM_033109.5

p.R136H

c.407G>A

1 paper

NM_033109.5

p.R136C

c.406C>T

2 papers

NM_033109.5

p.D135G

c.404A>G

3 papers

NM_033109.5

p.D135Splc

c.404-1G>A

1 paper

NM_033109.5

p.D135Splc

c.404-10C>G

1 paper

NM_033109.5

p.I133V

c.397A>G