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.P571delFs

c.1713delG

Surrounding Variants

1 paper

NM_001374828.1

p.W573*

c.1718G>A

1 paper

NM_001374828.1

p.W573*

c.1719G>A

4 papers

NM_001374828.1

p.A569fs

c.1705_1706fs

1 paper

NM_001374828.1

p.A568V

c.1703C>T

1 paper

NM_001374828.1

p.A575delFs

c.1723delG

1 paper

NM_001374828.1

p.A568T

c.1702G>A

1 paper

NM_001374828.1

p.A575fs

c.1723_1724fs

1 paper

NM_001374828.1

p.A567T

c.1699G>A

4 papers

NM_001374828.1

p.A567delFs

c.1701delC

1 paper

NM_001374828.1

p.A568_A576del0

c.1704_1727del24

1 paper

NM_001374828.1

p.Y566F

c.1697A>T

1 paper

NM_001374828.1

p.A576_Q577del1

c.1728_1730delGCA