Varaico: Literature-Extracted Genetic Variants

ASCC1

384 papers

RefSeq Summary

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple...

Pfam Domains

KH_1aa 60–121UCSCKH domain

AKAP7_NLSaa 133–210UCSCAKAP7 2'5' RNA ligase-like domain

Gene Aliases

HGNC Name

activating signal cointegrator 1 complex subunit 1

HGNC Alias Symbols

CGI-18; ASC1p50; Em:AC022392.3; p50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001198799.3

p.R138*

c.412C>T

NM_001198800.3

p.R110*

c.328C>T

Surrounding Variants

1 paper

NM_001198800.3

p.Q108delFs

c.322delG

1 paper

NM_001198800.3

p.V113L

c.337G>T

1 paper

NM_001198800.3

p.V113L

c.337G>C

1 paper

NM_001198800.3

p.T106I

c.317C>T

1 paper

NM_001198800.3

p.T106N

c.317C>A

1 paper

NM_001198800.3

p.I114N

c.341T>A

1 paper

NM_001198800.3

p.I105I

c.315C>A

2 papers

NM_001198799.3

p.I133delFs

c.397_398delAT

NM_001198800.3

p.I105delFs

c.313_314delAT

1 paper

NM_001198800.3

p.I105T

c.314T>C

2 papers

NM_001198799.3

p.V132Splc

c.395-2A>G

NM_001198800.3

p.V104Splc

c.311-2A>G

1 paper

NM_001198800.3

p.R117*

c.349C>T

1 paper

NM_001198800.3

p.F127C

c.380T>G