Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.F240fs

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
Selected Variant
2 papers
NM_001032382.2
p.F240fs
c.718_719fs
Surrounding Variants
1 paper
NM_001032382.2
p.L239insFs
c.715_716dupCT
1 paper
NM_001032382.2
p.Q242*
c.724C>T
1 paper
NM_001032382.2
p.P238_L239delFs
c.713_716del4
6 papers
NM_001032382.2
p.R243W
c.727C>T
1 paper
NM_001032382.2
p.P244A
c.730C>G
8 papers
NM_001032382.2
p.P244L
c.731C>T
1 paper
NM_001032382.2
p.A235T
c.703G>A
2 papers
NM_001032382.2
p.Y245D
c.733T>G
2 papers
NM_001032382.2
p.Y245F
c.734A>T
1 paper
NM_001032382.2
p.P246_P248delFs
c.738_742del5
1 paper
NM_001032382.2
p.S247fs
c.739_740fs
2 papers
NM_001032382.2
p.P248A
c.742C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."