Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.Q1260*

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.Q1260*
c.3778C>T
Surrounding Variants
1 paper
NM_020193.5
p.R1239H
c.3716G>A
1 paper
NM_001300942.2
p.T1237T
c.3711G>A
4 papers
NM_020193.5
p.T1216T
c.3648T>C
NM_001300942.2
p.T1231T
c.3693T>C
1 paper
NM_001300942.2
p.P1229S
c.3685C>T
3 papers
NM_001300942.2
p.T1216T
c.3648T>C
1 paper
NM_001300942.2
p.S1215Y
c.3644C>A
1 paper
NM_001300942.2
p.S1215F
c.3644C>T
2 papers
NM_001300942.2
p.A1213V
c.3638C>T
1 paper
NM_001300942.2
p.A1199A
c.3597A>T
1 paper
NM_001300942.2
p.I1182M
c.3546A>G
1 paper
NM_001300942.2
p.E1171K
c.3511G>A
2 papers
NM_001300942.2
p.M1167V
c.3499A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."