Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1

PQBP1

170 papers

RefSeq Summary

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients w...

Gene Aliases

HGNC Name

polyglutamine binding protein 1

HGNC Previous Symbols

RENS1; MRXS8; SHS; MRX55; MRX2; MRXS3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 145 variants
39 papers
NM_001032382.2
p.Y65C
c.194A>G
33 papers
NM_001032382.2
p.R153_E154delFs
c.459_462del4
16 papers
NM_001032382.2
p.R214insFs
c.641_642insC
13 papers
NM_001032382.2
p.R153fs
c.457_458fs
11 papers
NM_001032382.2
p.E154delFs
c.461_462delAG
9 papers
NM_001032382.2
p.R196*
c.586C>T
8 papers
NM_001032382.2
p.P244L
c.731C>T
7 papers
NM_001032382.2
p.K192delFs
c.575_576delAG
6 papers
NM_001032382.2
p.D211insFs
c.631_632insA
6 papers
NM_001032382.2
p.R243W
c.727C>T
5 papers
NM_001032382.2
p.R155insFs
c.464dupG
5 papers
NM_001032382.2
p.R155*
c.463C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."