Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.M130V

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.M130V
c.388A>G
Surrounding Variants
1 paper
NM_003079.5
p.K131K
c.393G>A
6 papers
NM_003079.5
p.Y126D
c.376T>G
1 paper
NM_003079.5
p.H134R
c.401A>G
1 paper
NM_003079.5
p.H134Q
c.402T>G
1 paper
NM_003079.5
p.H134Q
c.402T>A
2 papers
NM_003079.5
p.E125*
c.373G>T
1 paper
NM_003079.5
p.K123_I124Splc
c.370-7A>G
1 paper
NM_003079.5
p.Y139C
c.416A>G
1 paper
NM_003079.5
p.Y139Y
c.417C>T
1 paper
NM_003079.5
p.L140F
c.418C>T
1 paper
NM_003079.5
p.A141S
c.421G>T
1 paper
NM_003079.5
p.A141V
c.422C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."