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

2 papers

NM_033109.5

p.R738C

c.2212C>T

Surrounding Variants

2 papers

NM_033109.5

p.R738H

c.2213G>A

1 paper

NM_033109.5

p.A741T

c.2221G>A

1 paper

NM_033109.5

p.D742Y

c.2224G>T

6 papers

NM_033109.5

p.M745T

c.2234T>C

1 paper

NM_033109.5

p.S754delFs

c.2260delA

1 paper

NM_033109.5

p.V759M

c.2275G>A

1 paper

NM_033109.5

p.L763F

c.2289G>T

1 paper

NM_033109.5

p.L763F

c.2289G>C

1 paper

NM_033109.5

p.D765N

c.2293G>A

1 paper

NM_033109.5

p.R766S

c.2298A>T

1 paper

NM_033109.5

p.R766S

c.2298A>C

1 paper

NM_033109.5

p.R766del1

c.2296_2297delTCT