Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.E120K

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.E120K
c.358G>A
Surrounding Variants
1 paper
NM_003079.5
p.Y119delFs
c.357delG
3 papers
NM_003079.5
p.Y119*
c.357C>G
1 paper
NM_003079.5
p.Y119insFs
c.356dupA
2 papers
NM_003079.5
p.Y119*
c.357C>A
1 paper
NM_003079.5
p.E118E
c.354A>G
1 paper
NM_003079.5
p.E118*
c.352G>T
1 paper
NM_003079.5
p.N117N
c.351C>T
4 papers
NM_003079.5
p.K123_I124Splc
c.369+1G>T
1 paper
NM_003079.5
p.K123_I124Splc
c.369+1G>C
1 paper
NM_003079.5
p.K123_I124Splc
c.369+1G>A
1 paper
NM_003079.5
p.E114del1
c.340_341delTTC
1 paper
NM_003079.5
p.Q113delFs
c.339delT
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