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

6 papers

NM_033109.5

p.G76D

c.227G>A

Surrounding Variants

1 paper

NM_033109.5

p.D77A

c.230A>C

1 paper

NM_033109.5

p.A84V

c.251C>T

1 paper

NM_033109.5

p.K89Q

c.265A>C

1 paper

NM_033109.5

p.P90R

c.269C>G

1 paper

NM_033109.5

p.L98W

c.293T>G

1 paper

NM_033109.5

p.Q74_S75Splc

c.223-76G>A

1 paper

NM_033109.5

p.S70A

c.208T>G

4 papers

NM_033109.5

p.S70P

c.208T>C

1 paper

NM_033109.5

p.R65K

c.194G>A

1 paper

NM_033109.5

p.G61*

c.181G>T

1 paper

NM_033109.5

p.I58L

c.172A>T

1 paper

NM_033109.5

p.I58L

c.172A>C