Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.E249Q

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.E249Q
c.745G>C
Surrounding Variants
1 paper
NM_003079.5
p.R251*
c.751C>T
2 papers
NM_003079.5
p.R251Q
c.752G>A
1 paper
NM_003079.5
p.L246I
c.736C>A
3 papers
NM_003079.5
p.Q253*
c.757C>T
1 paper
NM_003079.5
p.L245F
c.733C>T
1 paper
NM_003079.5
p.E254K
c.760G>A
1 paper
NM_003079.5
p.E242delFs
c.726delT
1 paper
NM_003079.5
p.E242fs
c.724_725fs
1 paper
NM_003079.5
p.E242*
c.724G>T
1 paper
NM_003079.5
p.K256E
c.766A>G
1 paper
NM_003079.5
p.K256R
c.767A>G
7 papers
NM_003079.5
p.R239*
c.715C>T
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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."