Varaico: Literature-Extracted Genetic Variants

Gene:EMSY
Variant:p.T1088_Q1092del0

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.T1088_Q1092del0
c.3262_3276del15
Surrounding Variants
1 paper
NM_001300942.2
p.T1088S
c.3263C>G
2 papers
NM_020193.5
p.V1069M
c.3205G>A
NM_001300942.2
p.V1084M
c.3250G>A
1 paper
NM_020193.5
p.P1074P
c.3222C>G
1 paper
NM_001300942.2
p.Q1090H
c.3270G>C
1 paper
NM_001300942.2
p.Q1090H
c.3270G>T
2 papers
NM_001300942.2
p.Q1075H
c.3225G>C
2 papers
NM_001300942.2
p.Q1075H
c.3225G>T
1 paper
NM_001300942.2
p.Q1075K
c.3223C>A
1 paper
NM_020193.5
p.S1084P
c.3250T>C
1 paper
NM_001300942.2
p.Q1106_V1107Splc
c.3318+5C>T
1 paper
NM_001300942.2
p.P1055fs
c.3163_3164fs
1 paper
NM_001300942.2
p.P1055delFs
c.3164delC
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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."