Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.I206delFs

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.I206delFs
c.616delT
Surrounding Variants
1 paper
NM_003079.5
p.I206fs
c.616_617fs
3 papers
NM_003079.5
p.S208fs
c.622_623fs
1 paper
NM_003079.5
p.S208I
c.623G>T
1 paper
NM_003079.5
p.S208fs
c.622_623fs
6 papers
NM_003079.5
p.S208_E209delFs
c.624_627del4
1 paper
NM_003079.5
p.S208_E209del2
c.622_626del6
1 paper
NM_003079.5
p.R201S
c.601C>A
1 paper
NM_003079.5
p.V212fs
c.634_635fs
1 paper
NM_003079.5
p.H200L
c.599A>T
1 paper
NM_003079.5
p.V212fs
c.634_635fs
1 paper
NM_003079.5
p.V212insFs
c.636dupG
1 paper
NM_003079.5
p.D214D
c.642C>T
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