Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.G370Splc

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_020193.5
p.G370Splc
c.1108+40A>G
Surrounding Variants
1 paper
NM_001300942.2
p.Q384*
c.1150C>T
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
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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