Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.E1108*

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.E1108*
c.3322G>T
Surrounding Variants
1 paper
NM_001300943.2
p.I1097del1
c.3289_3291delATT
1 paper
NM_020193.5
p.I1097T
c.3290T>C
1 paper
NM_001300942.2
p.Q1114K
c.3340C>A
1 paper
NM_001300942.2
p.P1128T
c.3382C>A
1 paper
NM_001300942.2
p.T1130I
c.3389C>T
1 paper
NM_001300942.2
p.S1145L
c.3434C>T
1 paper
NM_001300942.2
p.V1147V
c.3441T>A
1 paper
NM_001300942.2
p.P1152S
c.3454C>T
1 paper
NM_001300942.2
p.E1157K
c.3469G>A
2 papers
NM_001300942.2
p.M1167V
c.3499A>G
1 paper
NM_001300942.2
p.E1171K
c.3511G>A
1 paper
NM_001300942.2
p.I1182M
c.3546A>G
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