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

1–12 of 258 variants

19 papers

NM_033109.5

p.A507S

c.1519G>T

17 papers

NM_033109.5

p.E475G

c.1424A>G

12 papers

NM_033109.5

p.Q387R

c.1160A>G

8 papers

NM_033109.5

p.I121V

c.361A>G

8 papers

NM_033109.5

p.R136H

c.407G>A

8 papers

NM_033109.5

p.P140L

c.419C>T

8 papers

NM_033109.5

p.R192*

c.574C>T

7 papers

NM_033109.5

p.Q254K

c.760C>A

7 papers

NM_033109.5

p.A510P

c.1528G>C

6 papers

NM_033109.5

p.G76D

c.227G>A

6 papers

NM_033109.5

p.D671_Q672Splc

c.2014-3C>G

6 papers

NM_033109.5

p.M745T

c.2234T>C