Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.S701L

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
2 papers
NM_001386863.1
p.S701L
c.2102C>T
Surrounding Variants
1 paper
NM_001386863.1
p.E702*
c.2104G>T
1 paper
NM_001386863.1
p.E700*
c.2098G>T
1 paper
NM_001386863.1
p.S691*
c.2072C>A
1 paper
NM_001386863.1
p.E678V
c.2033A>T
1 paper
NM_001386863.1
p.G670G
c.2010G>T
1 paper
NM_001386863.1
p.S643_S645ins1
c.1929_1934dup6
1 paper
NM_001386863.1
p.S645S
c.1935T>A
1 paper
NM_001386863.1
p.S645ins2
c.1934_1935ins6
1 paper
NM_001386863.1
p.S645ins2
c.1934_1935ins6
1 paper
NM_001386863.1
p.S644delins
c.1931delinsGTTCACG
2 papers
NM_001386863.1
p.S644ins2
c.1930_1931ins6
1 paper
NM_001386863.1
p.S640_T641ins2
c.1920_1921ins6
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