Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.P246_P248delFs

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.P246_P248delFs
c.738_742del5
Surrounding Variants
2 papers
NM_001032382.2
p.Y245F
c.734A>T
2 papers
NM_001032382.2
p.Y245D
c.733T>G
8 papers
NM_001032382.2
p.P244L
c.731C>T
1 paper
NM_001032382.2
p.S247fs
c.739_740fs
1 paper
NM_001032382.2
p.P244A
c.730C>G
2 papers
NM_001032382.2
p.P248A
c.742C>G
6 papers
NM_001032382.2
p.R243W
c.727C>T
1 paper
NM_001032382.2
p.G249R
c.745G>A
1 paper
NM_001032382.2
p.G249R
c.745G>C
1 paper
NM_001032382.2
p.Q242*
c.724C>T
4 papers
NM_001032382.2
p.V251A
c.752T>C
2 papers
NM_001032382.2
p.F240fs
c.718_719fs
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