Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.S77P

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.S77P
c.229T>C
Surrounding Variants
2 papers
NM_001032382.2
p.P78S
c.232C>T
1 paper
NM_001032382.2
p.P78Q
c.233C>A
1 paper
NM_001032382.2
p.W75*
c.225G>A
1 paper
NM_001032382.2
p.W75*
c.224G>A
1 paper
NM_001032382.2
p.T70fs
c.208_209fs
2 papers
NM_001032382.2
p.V84G
c.251T>G
1 paper
NM_001032382.2
p.T70delFs
c.209_210delCA
1 paper
NM_001032382.2
p.T86T
c.258C>A
1 paper
NM_001032382.2
p.Y65S
c.194A>C
39 papers
NM_001032382.2
p.Y65C
c.194A>G
1 paper
NM_001032382.2
p.Y65F
c.194A>T
1 paper
NM_001032382.2
p.A89T
c.265G>A
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