Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.S53*

EMSY

171 papers

Pfam Domains

ENTaa 17–86UCSCENT domain

Gene Aliases

HGNC Name

EMSY transcriptional repressor, BRCA2 interacting

HGNC Previous Symbol

C11orf30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001300942.2
p.S53*
c.158C>A
Surrounding Variants
1 paper
NM_001300942.2
p.S53*
c.158C>G
1 paper
NM_001300942.2
p.L52L
c.156A>G
1 paper
NM_001300942.2
p.K54N
c.162A>C
1 paper
NM_001300942.2
p.K54N
c.162A>T
2 papers
NM_001300942.2
p.E51D
c.153A>C
2 papers
NM_001300942.2
p.E51D
c.153A>T
1 paper
NM_001300942.2
p.L41delFs
c.122delT
1 paper
NM_001300942.2
p.A37S
c.109G>T
1 paper
NM_001300942.2
p.R36Q
c.107G>A
1 paper
NM_001300942.2
p.S33C
c.97A>T
1 paper
NM_001300942.2
p.E26D
c.78G>C
1 paper
NM_001300942.2
p.E26D
c.78G>T
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