Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.L209F

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.L209F
c.627G>T
Surrounding Variants
1 paper
NM_001386863.1
p.L209F
c.627G>C
1 paper
NM_001386863.1
p.E213K
c.637G>A
1 paper
NM_001386863.1
p.D206V
c.617A>T
1 paper
NM_001386863.1
p.S198Y
c.593C>A
1 paper
NM_001386863.1
p.D193N
c.577G>A
1 paper
NM_001386863.1
p.E192E
c.576G>A
1 paper
NM_001386863.1
p.E192G
c.575A>G
1 paper
NM_001386863.1
p.E239E
c.717G>A
2 papers
NM_001386863.1
p.E239_A240del1
c.717_719delGCC
2 papers
NM_001386863.1
p.E239_A240del2
c.715_719del6
1 paper
NM_001386863.1
p.A178T
c.532G>A
1 paper
NM_001386863.1
p.V256L
c.766G>T
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