Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.G113V

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.G113V
c.338G>T
Surrounding Variants
1 paper
NM_001032382.2
p.R112_D118del0
c.334_354del21
1 paper
NM_001032382.2
p.D125insFs
c.373dupG
1 paper
NM_001032382.2
p.E101K
c.301G>A
1 paper
NM_001032382.2
p.R126delFs
c.377_378delGG
1 paper
NM_001032382.2
p.S131_S138del0
c.393_413del21
1 paper
NM_001032382.2
p.R126K
c.377G>A
1 paper
NM_001032382.2
p.G127D
c.380G>A
1 paper
NM_001032382.2
p.D98E
c.294T>A
1 paper
NM_001032382.2
p.D129G
c.386A>G
1 paper
NM_001032382.2
p.S131T
c.391T>A
1 paper
NM_001032382.2
p.R133L
c.398G>T
1 paper
NM_001032382.2
p.R142*
c.424C>T
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