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.A543del1

c.1627_1628delGCG

Surrounding Variants

1 paper

NM_001374828.1

p.Q537*

c.1609C>T

1 paper

NM_001374828.1

p.A542T

c.1624G>A

1 paper

NM_001374828.1

p.P536T

c.1606C>A

1 paper

NM_001374828.1

p.A543G

c.1628C>G

1 paper

NM_001374828.1

p.A546_G549insFs

c.1638_1647dup10

2 papers

NM_001374828.1

p.A546_G549delFs

c.1638_1647del10

1 paper

NM_001374828.1

p.A545A

c.1635G>A

1 paper

NM_001374828.1

p.A546delFs

c.1637_1638delCG

1 paper

NM_001374828.1

p.P532fs

c.1594_1595fs

1 paper

NM_001374828.1

p.A547_Q551insFs

c.1641_1651dup11

2 papers

NM_001374828.1

p.A547_Q551delFs

c.1641_1651del11

1 paper

NM_001374828.1

p.P532delFs

c.1595delC