Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.V218G

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.V218G
c.653T>G
Surrounding Variants
1 paper
NM_003079.5
p.S217fs
c.649_650fs
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.T220T
c.660A>C
1 paper
NM_003079.5
p.V212_T220delFs
c.634_659del26
1 paper
NM_003079.5
p.S217_T220del4
c.649_659del12
1 paper
NM_003079.5
p.V212_T220del9
c.634_659del27
1 paper
NM_003079.5
p.V215I
c.643G>A
1 paper
NM_003079.5
p.D214D
c.642C>T
1 paper
NM_003079.5
p.A222V
c.665C>T
1 paper
NM_003079.5
p.A222G
c.665C>G
1 paper
NM_003079.5
p.V212insFs
c.636dupG
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