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.S640_Q641delFs

c.1920_1923del4

Surrounding Variants

1 paper

NM_033109.5

p.S640fs

c.1918_1919fs

1 paper

NM_033109.5

p.T646T

c.1938G>A

1 paper

NM_033109.5

p.G636D

c.1907G>A

1 paper

NM_033109.5

p.P654R

c.1961C>G

1 paper

NM_033109.5

p.H658Y

c.1972C>T

1 paper

NM_033109.5

p.R661K

c.1982G>A

1 paper

NM_033109.5

p.T665S

c.1993A>T

1 paper

NM_033109.5

p.T665S

c.1994C>G

1 paper

NM_033109.5

p.C668F

c.2003G>T

1 paper

NM_033109.5

p.D671_Q672Splc

c.2014-7C>G

6 papers

NM_033109.5

p.D671_Q672Splc

c.2014-3C>G

1 paper

NM_033109.5

p.Q672fs

c.2014_2015fs