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

3 papers

NM_001198800.3

p.P46L

c.137C>T

Surrounding Variants

1 paper

NM_001198800.3

p.P46H

c.137C>A

1 paper

NM_001198800.3

p.C47*

c.141T>A

1 paper

NM_001198800.3

p.E45*

c.133G>T

1 paper

NM_001198800.3

p.E45K

c.133G>A

1 paper

NM_001198800.3

p.D44delFs

c.132delA

1 paper

NM_001198800.3

p.D48N

c.142G>A

1 paper

NM_001198800.3

p.D48V

c.143A>T

1 paper

NM_001198800.3

p.D44G

c.131A>G

1 paper

NM_001198800.3

p.A43T

c.127G>A

1 paper

NM_001198800.3

p.E41delFs

c.123delC

1 paper

NM_001198800.3

p.E41G

c.122A>G

1 paper

NM_001198800.3

p.E53*

c.157G>T