Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1
Variant:p.P1070S

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.P1070S
c.3208C>T
Surrounding Variants
1 paper
NM_001386863.1
p.V1067I
c.3199G>A
1 paper
NM_001386863.1
p.P1066S
c.3196C>T
1 paper
NM_001386863.1
p.H1060P
c.3179A>C
1 paper
NM_001386863.1
p.R1098R
c.3294G>T
1 paper
NM_001386863.1
p.R1098R
c.3294G>C
1 paper
NM_001386863.1
p.R1038*
c.3112C>T
1 paper
NM_001386863.1
p.S1118F
c.3353C>T
1 paper
NM_001386863.1
p.R1117_E1129del0
c.3350_3385del36
1 paper
NM_001386863.1
p.R1117_E1129del13
c.3349_3386del39
1 paper
NM_001386863.1
p.A1150S
c.3448G>T
1 paper
NM_001386863.1
p.L1153Q
c.3458T>A
1 paper
NM_001386863.1
p.L1156F
c.3466C>T
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