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

1–12 of 187 variants

13 papers

NM_001198800.3

p.E53insFs

c.157dupG

7 papers

NM_001198800.3

p.E53fs

c.157_158fs

6 papers

NM_001198800.3

p.A291Splc

c.871+1G>A

5 papers

NM_001198800.3

p.L276L

c.826C>T

5 papers

NM_001198800.3

p.N290S

c.869A>G

4 papers

NM_001198800.3

p.E53fs

c.157_158fs

4 papers

NM_001198799.3

p.R138*

c.412C>T

4 papers

NM_001198800.3

p.S311*

c.932C>G

4 papers

NM_001198800.3

p.S311*

c.932C>A

3 papers

NM_001198800.3

p.P46L

c.137C>T

3 papers

NM_001198800.3

p.R110*

c.328C>T

3 papers

NM_001198799.3

p.R156*

c.466C>T