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

2 papers

NM_001374828.1

p.S1875Fs

c.5623_5625delinsTGACGTCTFs

Surrounding Variants

2 papers

NM_001374828.1

p.E1876insFs

c.5626dupG

1 paper

NM_001374828.1

p.E1873K

c.5617G>A

5 papers

NM_001374828.1

p.T1878delFs

c.5632delA

2 papers

NM_001374828.1

p.E1879_S1880delFs

c.5636_5639del4

3 papers

NM_001374828.1

p.E1879delFs

c.5635delG

1 paper

NM_001374828.1

p.E1879fs

c.5635_5636fs

1 paper

NM_001374828.1

p.D1881delFs

c.5641_5642delGA

1 paper

NM_001374828.1

p.D1870_E1872ins1

c.5610_5615dup6

1 paper

NM_001374828.1

p.E1868*

c.5602G>T

2 papers

NM_001374828.1

p.E1868delFs

c.5602_5603delGA

1 paper

NM_001374828.1

p.S1885delFs

c.5654delG

2 papers

NM_001374828.1

p.E1865K

c.5593G>A