Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.D214D

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.D214D
c.642C>T
Surrounding Variants
1 paper
NM_003079.5
p.V215I
c.643G>A
1 paper
NM_003079.5
p.V212insFs
c.636dupG
1 paper
NM_003079.5
p.V212fs
c.634_635fs
1 paper
NM_003079.5
p.V212fs
c.634_635fs
1 paper
NM_003079.5
p.S217fs
c.649_650fs
1 paper
NM_003079.5
p.S208_E209del2
c.622_626del6
1 paper
NM_003079.5
p.V218G
c.653T>G
6 papers
NM_003079.5
p.S208_E209delFs
c.624_627del4
1 paper
NM_003079.5
p.T220R
c.659C>G
1 paper
NM_003079.5
p.S217_T220delFs
c.651_658del8
1 paper
NM_003079.5
p.S208fs
c.622_623fs
1 paper
NM_003079.5
p.T220T
c.660A>C
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