Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.Q875*

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
2 papers
NM_001300942.2
p.Q875*
c.2623C>T
Surrounding Variants
1 paper
NM_001300942.2
p.P874L
c.2621C>T
1 paper
NM_001300942.2
p.H870D
c.2608C>G
1 paper
NM_001300942.2
p.T883I
c.2648C>T
1 paper
NM_001300942.2
p.Q886H
c.2658G>T
1 paper
NM_001300942.2
p.T897A
c.2689A>G
1 paper
NM_001300942.2
p.G934*
c.2800G>T
1 paper
NM_001300942.2
p.E936_E937delFs
c.2808_2811del4
1 paper
NM_001300942.2
p.M943T
c.2828T>C
1 paper
NM_001300942.2
p.R955*
c.2863C>T
1 paper
NM_001300942.2
p.T959I
c.2876C>T
2 papers
NM_020193.5
p.L954R
c.2861T>G
1 paper
NM_001300942.2
p.E975*
c.2923G>T
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