Varaico: Literature-Extracted Genetic Variants

Gene:BPTF
Variant:p.P90insFs

BPTF

269 papers

RefSeq Summary

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (...

Gene Aliases

HGNC Name

bromodomain PHD finger transcription factor

HGNC Previous Symbol

FALZ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182641.4
p.P90insFs
c.269dupC
Surrounding Variants
1 paper
NM_182641.4
p.P90_R92del3
c.268_275del9
3 papers
NM_182641.4
p.S86fs
c.256_257fs
1 paper
NM_182641.4
p.R92Fs
c.274delinsCGFs
1 paper
NM_182641.4
p.G94delFs
c.282delG
2 papers
NM_182641.4
p.R92fs
c.274_275fs
1 paper
NM_182641.4
p.P84S
c.250C>T
1 paper
NM_182641.4
p.R95fs
c.283_284fs
1 paper
NM_182641.4
p.A83P
c.247G>C
4 papers
NM_182641.4
p.P85insFs
c.255dupC
1 paper
NM_182641.4
p.P85delFs
c.255delC
2 papers
NM_182641.4
p.G96A
c.287G>C
1 paper
NM_182641.4
p.P80_P82del0
c.238_246del9
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