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.Q257E

c.769C>G

Surrounding Variants

1 paper

NM_033109.5

p.Q257R

c.770A>G

1 paper

NM_033109.5

p.Q254L

c.761A>T

7 papers

NM_033109.5

p.Q254K

c.760C>A

1 paper

NM_033109.5

p.V249M

c.745G>A

1 paper

NM_033109.5

p.T278S

c.832A>T

1 paper

NM_033109.5

p.T278S

c.833C>G

1 paper

NM_033109.5

p.E230Q

c.688G>C

2 papers

NM_033109.5

p.V284V

c.852G>C

1 paper

NM_033109.5

p.T287A

c.859A>G

1 paper

NM_033109.5

p.A291P

c.871G>C

1 paper

NM_033109.5

p.E303K

c.907G>A

1 paper

NM_033109.5

p.L318*

c.953T>A