Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.P405S

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.P405S
c.1213C>T
Surrounding Variants
1 paper
NM_003079.5
p.P405L
c.1214C>T
1 paper
NM_003079.5
p.E406K
c.1216G>A
2 papers
NM_003079.5
p.I404V
c.1210A>G
1 paper
NM_003079.5
p.P403delFs
c.1209delG
1 paper
NM_003079.5
p.P403L
c.1208C>T
1 paper
NM_003079.5
p.P400Q
c.1199C>A
1 paper
NM_003079.5
p.V396M
c.1186G>A
1 paper
NM_003079.5
p.S391N
c.1172G>A
1 paper
NM_003079.5
p.S389*
c.1166C>A
1 paper
NM_003079.5
p.T387P
c.1159A>C
1 paper
NM_003079.5
p.N386K
c.1158C>G
1 paper
NM_003079.5
p.K367delFs
c.1100delT
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