Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.D90fs

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.D90fs
c.268_269fs
Surrounding Variants
1 paper
NM_003079.5
p.D90N
c.268G>A
3 papers
NM_003079.5
p.P89delFs
c.267delA
1 paper
NM_003079.5
p.P89L
c.266C>T
2 papers
NM_003079.5
p.K92N
c.276G>T
2 papers
NM_003079.5
p.K92insFs
c.275_276insA
3 papers
NM_003079.5
p.K92N
c.276G>C
1 paper
NM_003079.5
p.K92K
c.276G>A
3 papers
NM_003079.5
p.L93fs
c.277_278fs
1 paper
NM_003079.5
p.L93fs
c.277_278fs
1 paper
NM_003079.5
p.L93delFs
c.278delA
1 paper
NM_003079.5
p.W94*
c.281G>A
1 paper
NM_003079.5
p.W94*
c.282G>A
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