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

1 paper

NM_001198800.3

p.N316fs

c.946_947fs

Surrounding Variants

2 papers

NM_001198799.3

p.R343*

c.1027C>T

1 paper

NM_001198800.3

p.K319_L320Splc

c.957+1G>T

4 papers

NM_001198800.3

p.S311*

c.932C>G

4 papers

NM_001198800.3

p.S311*

c.932C>A

1 paper

NM_001198800.3

p.F306L

c.918C>G

1 paper

NM_001198800.3

p.Y304F

c.911A>T

3 papers

NM_001198800.3

p.L297F

c.889C>T

1 paper

NM_001198800.3

p.E292A

c.875A>C

1 paper

NM_001198800.3

p.E292delFs

c.874delC

1 paper

NM_001198800.3

p.A291Splc

c.872-1G>C

1 paper

NM_001198800.3

p.A291Splc

c.871+8C>G

6 papers

NM_001198800.3

p.A291Splc

c.871+1G>A