Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.D202H

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.D202H
c.604G>C
Surrounding Variants
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
1 paper
NM_001032382.2
p.D198V
c.593A>T
1 paper
NM_001032382.2
p.S207_S208Fs
c.621_624delinsGAAFs
9 papers
NM_001032382.2
p.R196*
c.586C>T
1 paper
NM_001032382.2
p.V194fs
c.580_581fs
1 paper
NM_001032382.2
p.A193insFs
c.579dupA
1 paper
NM_001032382.2
p.A193G
c.578C>G
6 papers
NM_001032382.2
p.D211insFs
c.631_632insA
1 paper
NM_001032382.2
p.D211insFs
c.631_632insAC
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