Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.K367delFs

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.K367delFs
c.1100delT
Surrounding Variants
1 paper
NM_003079.5
p.S362S
c.1086T>C
1 paper
NM_003079.5
p.S362F
c.1085C>T
1 paper
NM_003079.5
p.T361T
c.1083G>A
2 papers
NM_003079.5
p.T361M
c.1082C>T
6 papers
NM_003079.5
p.G360D
c.1079G>A
1 paper
NM_003079.5
p.E359del1
c.1075_1076delTTC
1 paper
NM_003079.5
p.Q354R
c.1061A>G
1 paper
NM_003079.5
p.E352E
c.1056G>A
1 paper
NM_003079.5
p.N386K
c.1158C>G
1 paper
NM_003079.5
p.T387P
c.1159A>C
1 paper
NM_003079.5
p.H346L
c.1037A>T
1 paper
NM_003079.5
p.S389*
c.1166C>A
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