Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.L618*

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.L618*
c.1853T>A
Surrounding Variants
1 paper
NM_001300942.2
p.G622*
c.1864G>T
1 paper
NM_001300942.2
p.N613D
c.1837A>G
1 paper
NM_001300942.2
p.S589F
c.1766C>T
1 paper
NM_001300942.2
p.P586S
c.1756C>T
1 paper
NM_020193.5
p.G562Splc
c.1685-10C>T
2 papers
NM_020193.5
p.G562Splc
c.1685-14C>T
1 paper
NM_001300942.2
p.I627V
c.1879A>G
1 paper
NM_001300942.2
p.A641V
c.1922C>T
1 paper
NM_001300942.2
p.P668S
c.2002C>T
1 paper
NM_001300942.2
p.T669P
c.2005A>C
1 paper
NM_001300942.2
p.K670Q
c.2008A>C
1 paper
NM_001300942.2
p.K670T
c.2009A>C
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