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

5 papers

NM_001198800.3

p.N290S

c.869A>G

Surrounding Variants

6 papers

NM_001198800.3

p.A291Splc

c.871+1G>A

1 paper

NM_001198800.3

p.P289S

c.865C>T

1 paper

NM_001198800.3

p.A291Splc

c.871+8C>G

1 paper

NM_001198800.3

p.K287*

c.859A>T

1 paper

NM_001198799.3

p.T311R

c.932C>G

1 paper

NM_001198800.3

p.A278V

c.833C>T

1 paper

NM_001198800.3

p.H277Y

c.829C>T

1 paper

NM_001198800.3

p.W271_L276del0

c.811_828del18

5 papers

NM_001198800.3

p.L276L

c.826C>T

1 paper

NM_001198800.3

p.V274delFs

c.821delA

1 paper

NM_001198800.3

p.W271*

c.812G>A

1 paper

NM_001198800.3

p.E270delFs

c.808_809delTC