Varaico: Literature-Extracted Genetic Variants

ARID1B

881 papers

RefSeq Summary

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. Th...

Pfam Domains

ARIDaa 1151–1236UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 2023–2278UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1B

HGNC Alias Symbols

KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; SMARCF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001374828.1

p.S121_S123del3

c.361_368del9

Surrounding Variants

1 paper

NM_001374828.1

p.S120_S121ins0

c.360_362dupCTC

6 papers

NM_001374828.1

p.S122del1

c.364_366delTCC

1 paper

NM_001374828.1

p.S118_S123del6

c.352_368del18

1 paper

NM_001374828.1

p.L117_S121del0

c.351_362del12

1 paper

NM_001374828.1

p.S118_S119ins2

c.354_355ins6

1 paper

NM_001374828.1

p.L117_S120del4

c.349_359del12

2 papers

NM_001374828.1

p.S119T

c.355T>A

1 paper

NM_001374828.1

p.S121delFs

c.361_362delTC

2 papers

NM_001374828.1

p.A115_S121del0

c.345_362del18

3 papers

NM_001374828.1

p.S121insFs

c.362_363insGC

1 paper

NM_001374828.1

p.S121_A127del0

c.363_380del18

1 paper

NM_001374828.1

p.A115_S123del9

c.343_368del27