Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.E312G

ACIN1

101 papers

RefSeq Summary

Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensati...

Pfam Domains

SAPaa 71–107UCSCSAP domain
SAPaa 71–107UCSCSAP domain
RSB_motifaa 1129–1247UCSCRNSP1-SAP18 binding (RSB) motif

Gene Aliases

HGNC Name

apoptotic chromatin condensation inducer 1

HGNC Previous Symbol

ACINUS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001386863.1
p.E312G
c.935A>G
Surrounding Variants
1 paper
NM_001386863.1
p.E313K
c.937G>A
1 paper
NM_001386863.1
p.R314K
c.941G>A
1 paper
NM_001386863.1
p.E324*
c.970G>T
1 paper
NM_001386863.1
p.L334L
c.1000C>T
1 paper
NM_001386863.1
p.E287D
c.861A>T
2 papers
NM_001386863.1
p.F282L
c.846T>A
1 paper
NM_001386863.1
p.V344I
c.1030G>A
2 papers
NM_001386863.1
p.G279_G280del1
c.837_839delCCT
1 paper
NM_001386863.1
p.L346P
c.1037T>C
1 paper
NM_001386863.1
p.P347A
c.1039C>G
1 paper
NM_001386863.1
p.E274E
c.822G>A
1 paper
NM_001386863.1
p.E274G
c.821A>G
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