Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.Q798*

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
3 papers
NM_001300942.2
p.Q798*
c.2392C>T
Surrounding Variants
1 paper
NM_001300942.2
p.T800A
c.2398A>G
1 paper
NM_001300942.2
p.T801_V802ins4
c.2401_2405ins12
1 paper
NM_001300942.2
p.A787V
c.2360C>T
1 paper
NM_001300942.2
p.D779G
c.2336A>G
1 paper
NM_001300942.2
p.I775insFs
c.2324_2325ins8
1 paper
NM_001300942.2
p.P773R
c.2318C>G
1 paper
NM_001300942.2
p.T771I
c.2312C>T
1 paper
NM_001300942.2
p.I767M
c.2301T>G
1 paper
NM_001300942.2
p.A756V
c.2267C>T
1 paper
NM_001300942.2
p.E804_K805ins4
c.2410_2414ins12
1 paper
NM_001300942.2
p.V842L
c.2524G>C
1 paper
NM_001300942.2
p.E843Q
c.2527G>C
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