Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.D211insFs

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
6 papers
NM_001032382.2
p.D211insFs
c.631_632insA
Surrounding Variants
1 paper
NM_001032382.2
p.D211insFs
c.631_632insAC
2 papers
NM_001032382.2
p.R214insFs
c.640dupC
1 paper
NM_001032382.2
p.A212fs
c.634_635fs
3 papers
NM_001032382.2
p.R214W
c.640C>T
1 paper
NM_001032382.2
p.R214fs
c.640_641fs
1 paper
NM_001032382.2
p.S207_S208Fs
c.621_624delinsGAAFs
16 papers
NM_001032382.2
p.R214insFs
c.641_642insC
2 papers
NM_001032382.2
p.D202H
c.604G>C
1 paper
NM_001032382.2
p.L201delFs
c.601delT
1 paper
NM_001032382.2
p.E200fs
c.598_599fs
1 paper
NM_001032382.2
p.E200fs
c.598_599fs
2 papers
NM_001032382.2
p.E200delFs
c.599_600delAG
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