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

2 papers

NM_001198800.3

p.S67C

c.199A>T

Surrounding Variants

2 papers

NM_001198800.3

p.S67T

c.200G>C

1 paper

NM_001198800.3

p.A65P

c.193G>C

1 paper

NM_001198800.3

p.R64M

c.191G>T

1 paper

NM_001198800.3

p.K71Splc

c.212+1G>T

1 paper

NM_001198800.3

p.R60Q

c.179G>A

1 paper

NM_001198800.3

p.Q57*

c.169C>T

1 paper

NM_001198800.3

p.T55A

c.163A>G

4 papers

NM_001198800.3

p.E53fs

c.157_158fs

13 papers

NM_001198800.3

p.E53insFs

c.157dupG

1 paper

NM_001198800.3

p.E53*

c.157G>T

7 papers

NM_001198800.3

p.E53fs

c.157_158fs

1 paper

NM_001198800.3

p.D48V

c.143A>T