Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.Y76Y

SMARCE1

183 papers

RefSeq Summary

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The...

Pfam Domains

HMG_boxaa 66–134UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit E1

HGNC Alias Symbol

BAF57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003079.5
p.Y76Y
c.228C>T
Surrounding Variants
1 paper
NM_003079.5
p.Y76*
c.228C>G
1 paper
NM_003079.5
p.Y76fs
c.226_227fs
2 papers
NM_003079.5
p.Y76*
c.228C>A
3 papers
NM_003079.5
p.Y76C
c.227A>G
1 paper
NM_003079.5
p.R75K
c.224G>A
1 paper
NM_003079.5
p.M71_M74del0
c.212_220del9
1 paper
NM_003079.5
p.Y73_M74delFs
c.217_220del4
2 papers
NM_003079.5
p.K79_V80ins3
c.235_239ins9
2 papers
NM_003079.5
p.K79_V80Splc
c.237+1G>T
17 papers
NM_003079.5
p.Y73C
c.218A>G
8 papers
NM_003079.5
p.Y73S
c.218A>C
5 papers
NM_003079.5
p.K79_V80Splc
c.237+2T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."