Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.K513R

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.K513R
c.1538A>G
Surrounding Variants
1 paper
NM_001386863.1
p.A502insFs
c.1506dupT
1 paper
NM_001386863.1
p.S493Y
c.1478C>A
1 paper
NM_001386863.1
p.P492L
c.1475C>T
1 paper
NM_001386863.1
p.R536insFs
c.1607_1608insGA
1 paper
NM_001386863.1
p.A479V
c.1436C>T
1 paper
NM_001386863.1
p.A559T
c.1675G>A
1 paper
NM_001386863.1
p.S467P
c.1399T>C
1 paper
NM_001386863.1
p.R560S
c.1678C>A
1 paper
NM_001386863.1
p.R560P
c.1679G>C
1 paper
NM_001386863.1
p.R560H
c.1679G>A
1 paper
NM_001386863.1
p.T561N
c.1682C>A
1 paper
NM_001386863.1
p.E463D
c.1389G>T
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