Varaico: Literature-Extracted Genetic Variants

Gene:ACIN1

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
1–12 of 144 variants
2 papers
NM_001386863.1
p.K80delFs
c.239_240delTT
2 papers
NM_001386863.1
p.E239_A240del1
c.717_719delGCC
2 papers
NM_001386863.1
p.E239_A240del2
c.715_719del6
2 papers
NM_001386863.1
p.G279_G280del1
c.837_839delCCT
2 papers
NM_001386863.1
p.F282L
c.846T>A
2 papers
NM_001386863.1
p.R604ins2
c.1810_1811ins6
2 papers
NM_001386863.1
p.D605ins2
c.1814_1815ins6
2 papers
NM_001386863.1
p.S644ins2
c.1930_1931ins6
2 papers
NM_001386863.1
p.S701L
c.2102C>T
2 papers
NM_001386863.1
p.D717_S719del3
c.2149_2156del9
2 papers
NM_001386863.1
p.S837_I839del3
c.2509_2516del9
1 paper
NM_001386863.1
p.A2A
c.6G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."