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.K345E

c.1033A>G

Surrounding Variants

1 paper

NM_033109.5

p.V343A

c.1028T>C

1 paper

NM_033109.5

p.V342A

c.1025T>C

1 paper

NM_033109.5

p.V352L

c.1054G>C

1 paper

NM_033109.5

p.A331T

c.991G>A

1 paper

NM_033109.5

p.R358Splc

c.1073+7A>G

1 paper

NM_033109.5

p.F328L

c.984T>G

1 paper

NM_033109.5

p.F328L

c.984T>A

1 paper

NM_033109.5

p.R358Splc

c.1073+10C>T

1 paper

NM_033109.5

p.F328L

c.982T>C

1 paper

NM_033109.5

p.E326Splc

c.977-22T>A

1 paper

NM_033109.5

p.E326Splc

c.977-34A>T

1 paper

NM_033109.5

p.R358Splc

c.1074-6C>A