Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.Q384*

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.Q384*
c.1150C>T
Surrounding Variants
1 paper
NM_001300943.2
p.S366delFs
c.1097delC
1 paper
NM_001300942.2
p.M379insFs
c.1135_1136insA
1 paper
NM_001300942.2
p.T374A
c.1120A>G
1 paper
NM_001300942.2
p.S373C
c.1118C>G
2 papers
NM_020193.5
p.G370Splc
c.1108+40A>G
1 paper
NM_001300942.2
p.S347_N348delins
c.1041_1044delinsT
1 paper
NM_001300942.2
p.I338L
c.1012A>C
1 paper
NM_001300942.2
p.K333R
c.998A>G
1 paper
NM_001300942.2
p.S310Y
c.929C>A
1 paper
NM_001300942.2
p.S310F
c.929C>T
1 paper
NM_001300942.2
p.N307S
c.920A>G
1 paper
NM_001300942.2
p.K292M
c.875A>T
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