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

12 papers

NM_033109.5

p.Q387R

c.1160A>G

Surrounding Variants

1 paper

NM_033109.5

p.G382E

c.1145G>A

1 paper

NM_033109.5

p.H381Y

c.1141C>T

1 paper

NM_033109.5

p.Q392_V393Splc

c.1176+10A>G

1 paper

NM_033109.5

p.F377L

c.1131T>G

1 paper

NM_033109.5

p.F377L

c.1131T>A

1 paper

NM_033109.5

p.F377L

c.1129T>C

1 paper

NM_033109.5

p.M376T

c.1127T>C

1 paper

NM_033109.5

p.S366L

c.1097C>T

1 paper

NM_033109.5

p.R362Q

c.1085G>A

1 paper

NM_033109.5

p.R362W

c.1084C>T

1 paper

NM_033109.5

p.R358Splc

c.1074-6C>A

1 paper

NM_033109.5

p.R358Splc

c.1073+10C>T