Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.A479V

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.A479V
c.1436C>T
Surrounding Variants
1 paper
NM_001386863.1
p.S467P
c.1399T>C
1 paper
NM_001386863.1
p.P492L
c.1475C>T
1 paper
NM_001386863.1
p.S493Y
c.1478C>A
1 paper
NM_001386863.1
p.E463D
c.1389G>T
1 paper
NM_001386863.1
p.E463D
c.1389G>C
1 paper
NM_001386863.1
p.P462insFs
c.1386dupT
1 paper
NM_001386863.1
p.A456S
c.1366G>T
1 paper
NM_001386863.1
p.A502insFs
c.1506dupT
1 paper
NM_001386863.1
p.S455*
c.1364C>A
1 paper
NM_001386863.1
p.K513R
c.1538A>G
1 paper
NM_001386863.1
p.A434A
c.1302A>G
1 paper
NM_001386863.1
p.T428N
c.1283C>A
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