Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.K174I

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
1 paper
NM_001032382.2
p.K174I
c.521A>T
Surrounding Variants
1 paper
NM_001032382.2
p.E172_G173delFs
c.514_517del4
1 paper
NM_001032382.2
p.E171insFs
c.512_513insGC
3 papers
NM_001032382.2
p.R177H
c.530G>A
2 papers
NM_001032382.2
p.R170fs
c.508_509fs
1 paper
NM_001032382.2
p.R170W
c.508C>T
1 paper
NM_001032382.2
p.R170delFs
c.508delC
1 paper
NM_001032382.2
p.R180L
c.539G>T
1 paper
NM_001032382.2
p.R181W
c.541C>T
4 papers
NM_001032382.2
p.E183_S190delFs
c.547_569del23
1 paper
NM_001032382.2
p.E183fs
c.547_548fs
1 paper
NM_001032382.2
p.E183G
c.548A>G
1 paper
NM_001032382.2
p.A185V
c.554C>T
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