Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.R21*

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.R21*
c.61C>T
Surrounding Variants
1 paper
NM_001300942.2
p.R21L
c.62G>T
1 paper
NM_001300942.2
p.K22N
c.66A>C
1 paper
NM_001300942.2
p.K22N
c.66A>T
2 papers
NM_001300942.2
p.R18I
c.53G>T
1 paper
NM_001300942.2
p.E24Splc
c.70+1G>A
3 papers
NM_001300942.2
p.V4V
c.12G>C
1 paper
NM_001300942.2
p.E26D
c.78G>C
1 paper
NM_001300942.2
p.E26D
c.78G>T
1 paper
NM_001300942.2
p.S33C
c.97A>T
1 paper
NM_001300942.2
p.R36Q
c.107G>A
1 paper
NM_001300942.2
p.A37S
c.109G>T
1 paper
NM_001300942.2
p.L41delFs
c.122delT
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