Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.K1005*

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.K1005*
c.3013A>T
Surrounding Variants
1 paper
NM_001300942.2
p.L1002F
c.3004C>T
1 paper
NM_001300942.2
p.Q993*
c.2977C>T
2 papers
NM_001300942.2
p.L1019V
c.3055C>G
1 paper
NM_001300942.2
p.K990K
c.2970A>G
1 paper
NM_001300942.2
p.Q988Q
c.2964G>A
1 paper
NM_001300942.2
p.L1022I
c.3064C>A
1 paper
NM_020193.5
p.L1007fs
c.3019_3020fs
1 paper
NM_001300942.2
p.K1030ins1
c.3089_3090insGTG
1 paper
NM_001300942.2
p.K1030insFs
c.3089_3090ins5
1 paper
NM_001300942.2
p.E975*
c.2923G>T
2 papers
NM_020193.5
p.L954R
c.2861T>G
1 paper
NM_001300942.2
p.K1043_D1044ins2
c.3129_3130ins6
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