Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.E154delFs

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
11 papers
NM_001032382.2
p.E154delFs
c.461_462delAG
Surrounding Variants
1 paper
NM_001032382.2
p.R151insFs
c.451dupA
4 papers
NM_001032382.2
p.E154insFs
c.461_462dupAG
33 papers
NM_001032382.2
p.R153_E154delFs
c.459_462del4
1 paper
NM_001032382.2
p.R151*
c.451A>T
1 paper
NM_001032382.2
p.D150fs
c.448_449fs
1 paper
NM_001032382.2
p.E152fs
c.454_455fs
1 paper
NM_001032382.2
p.D150_R151delFs
c.450_453del4
1 paper
NM_001032382.2
p.R153del1
c.457_459delAGA
2 papers
NM_001032382.2
p.R153fs
c.457_458fs
13 papers
NM_001032382.2
p.R153fs
c.457_458fs
1 paper
NM_001032382.2
p.R153K
c.458G>A
2 papers
NM_001032382.2
p.R153S
c.459A>C
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