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.L137delFs

c.411delA

Surrounding Variants

1 paper

NM_001198800.3

p.A138fs

c.412_413fs

1 paper

NM_001198800.3

p.A138V

c.413C>T

1 paper

NM_001198800.3

p.H135delFs

c.405delG

1 paper

NM_001198800.3

p.F140Y

c.419T>A

1 paper

NM_001198800.3

p.H135Q

c.405C>A

1 paper

NM_001198800.3

p.E145K

c.433G>A

1 paper

NM_001198800.3

p.Q131E

c.391C>G

2 papers

NM_001198800.3

p.E148Q

c.442G>C

5 papers

NM_001198799.3

p.R156*

c.466C>T

NM_001198800.3

p.R128*

c.382C>T

1 paper

NM_001198799.3

p.F155delFs

c.464_465delAA

1 paper

NM_001198800.3

p.F127C

c.380T>G

1 paper

NM_001198800.3

p.F153C

c.458T>G