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

1 paper

NM_001374828.1

p.S121S

c.363C>G

Surrounding Variants

1 paper

NM_001374828.1

p.S121_S122ins1

c.363_364insCAG

2 papers

NM_001374828.1

p.S121_S122ins2

c.363_364ins6

1 paper

NM_001374828.1

p.S121_S122ins3

c.363_364ins9

3 papers

NM_001374828.1

p.S121_S122insFs

c.363_364insG

2 papers

NM_001374828.1

p.S121_S122insFs

c.363_364ins4

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.S122_S123ins7

c.366_367ins21

5 papers

NM_001374828.1

p.S123_S131ins3

c.369_392dup24

1 paper

NM_001374828.1

p.S124_S132del0

c.372_395del24

1 paper

NM_001374828.1

p.S121delFs

c.361_362delTC

1 paper

NM_001374828.1

p.S124_A125delFs

c.370_373del4