Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.K292M

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.K292M
c.875A>T
Surrounding Variants
1 paper
NM_001300942.2
p.T288R
c.863C>G
1 paper
NM_001300942.2
p.T283S
c.847A>T
1 paper
NM_020193.5
p.P258P
c.774T>C
1 paper
NM_001300942.2
p.P268_P269insFs
c.804_805ins4
1 paper
NM_001300942.2
p.L267_P268insFs
c.801_802ins4
1 paper
NM_001300942.2
p.S262_I263insFs
c.786_787insT
1 paper
NM_001300942.2
p.T247fs
c.739_740fs
1 paper
NM_001300942.2
p.T247delFs
c.739_740delAC
1 paper
NM_001300942.2
p.V242delins
c.726delinsCCAT
1 paper
NM_001300942.2
p.L232L
c.694C>T
1 paper
NM_001300942.2
p.E212K
c.634G>A
2 papers
NM_001300942.2
p.S210L
c.629C>T
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