Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.R105*

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.R105*
c.313C>T
Surrounding Variants
9 papers
NM_003079.5
p.R105Q
c.314G>A
2 papers
NM_003079.5
p.W104*
c.312G>A
3 papers
NM_003079.5
p.W104*
c.311G>A
1 paper
NM_003079.5
p.W104R
c.310T>C
1 paper
NM_003079.5
p.W104R
c.310T>A
1 paper
NM_003079.5
p.W104_R105delFs
c.311_315del5
1 paper
NM_003079.5
p.D106fs
c.316_317fs
1 paper
NM_003079.5
p.D106delFs
c.318delA
1 paper
NM_003079.5
p.L107R
c.320T>G
1 paper
NM_003079.5
p.L107P
c.320T>C
1 paper
NM_003079.5
p.D109D
c.327T>C
1 paper
NM_003079.5
p.E110K
c.328G>A
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