Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.P175fs

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
1 paper
NM_003079.5
p.P175fs
c.523_524fs
Surrounding Variants
2 papers
NM_003079.5
p.P175delFs
c.525delA
1 paper
NM_003079.5
p.P175L
c.524C>T
1 paper
NM_003079.5
p.D178G
c.533A>G
1 paper
NM_003079.5
p.S172R
c.516C>G
1 paper
NM_003079.5
p.S172R
c.516C>A
1 paper
NM_003079.5
p.S172R
c.514A>C
1 paper
NM_003079.5
p.D180N
c.538G>A
1 paper
NM_003079.5
p.D181N
c.541G>A
1 paper
NM_003079.5
p.P169P
c.507G>A
2 papers
NM_003079.5
p.P169L
c.506C>T
1 paper
NM_003079.5
p.Q159K
c.475C>A
5 papers
NM_003079.5
p.R158*
c.472C>T
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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."