Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.P66L

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.P66L
c.197C>T
Surrounding Variants
1 paper
NM_003079.5
p.P66delFs
c.197delG
1 paper
NM_003079.5
p.P66fs
c.196_197fs
1 paper
NM_003079.5
p.P69Q
c.206C>A
1 paper
NM_003079.5
p.K68_P69del2
c.202_206del6
1 paper
NM_003079.5
p.L70delFs
c.208_209delAG
1 paper
NM_003079.5
p.K61N
c.183A>T
1 paper
NM_003079.5
p.K61N
c.183A>C
1 paper
NM_003079.5
p.K61I
c.182A>T
1 paper
NM_003079.5
p.K61E
c.181A>G
17 papers
NM_003079.5
p.Y73C
c.218A>G
8 papers
NM_003079.5
p.Y73S
c.218A>C
1 paper
NM_003079.5
p.Y73_M74delFs
c.217_220del4
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