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.R111*

c.331A>T

Surrounding Variants

1 paper

NM_033109.5

p.K105_A109delFs

c.313_326del14

1 paper

NM_033109.5

p.R111_I112delFs

c.333_334delTT

1 paper

NM_033109.5

p.Q104H

c.312A>T

1 paper

NM_033109.5

p.Q104H

c.312A>C

1 paper

NM_033109.5

p.Q104*

c.310C>T

8 papers

NM_033109.5

p.I121V

c.361A>G

1 paper

NM_033109.5

p.G122R

c.364G>C

1 paper

NM_033109.5

p.G122S

c.364G>A

1 paper

NM_033109.5

p.V99_V100Splc

c.298-4T>A

1 paper

NM_033109.5

p.D125E

c.375T>G

1 paper

NM_033109.5

p.T130A

c.388A>G

1 paper

NM_033109.5

p.R132*

c.394C>T