Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.A141V

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.A141V
c.422C>T
Surrounding Variants
1 paper
NM_003079.5
p.A141S
c.421G>T
1 paper
NM_003079.5
p.L140F
c.418C>T
1 paper
NM_003079.5
p.Y139Y
c.417C>T
1 paper
NM_003079.5
p.I143V
c.427A>G
1 paper
NM_003079.5
p.Y139C
c.416A>G
1 paper
NM_003079.5
p.N144insFs
c.432dupT
1 paper
NM_003079.5
p.A145fs
c.433_434fs
1 paper
NM_003079.5
p.H134Q
c.402T>G
1 paper
NM_003079.5
p.H134Q
c.402T>A
1 paper
NM_003079.5
p.R148C
c.442C>T
1 paper
NM_003079.5
p.R148H
c.443G>A
1 paper
NM_003079.5
p.H134R
c.401A>G
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