Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.E111fs

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.E111fs
c.331_332fs
Surrounding Variants
1 paper
NM_003079.5
p.E111insFs
c.331dupG
1 paper
NM_003079.5
p.E111*
c.331G>T
2 papers
NM_003079.5
p.K112I
c.335A>T
1 paper
NM_003079.5
p.E110K
c.328G>A
1 paper
NM_003079.5
p.D109D
c.327T>C
1 paper
NM_003079.5
p.Q113fs
c.337_338fs
1 paper
NM_003079.5
p.Q113delFs
c.339delT
1 paper
NM_003079.5
p.E114del1
c.340_341delTTC
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.D106delFs
c.318delA
1 paper
NM_003079.5
p.D106fs
c.316_317fs
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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."