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.E105fs

c.313_314fs

Surrounding Variants

1 paper

NM_001374828.1

p.E105Q

c.313G>C

1 paper

NM_001374828.1

p.E105delFs

c.315delG

1 paper

NM_001374828.1

p.A106_A107del1

c.317_319delCGG

1 paper

NM_001374828.1

p.A106_L108delFs

c.316_322del7

1 paper

NM_001374828.1

p.A106T

c.316G>A

1 paper

NM_001374828.1

p.G103G

c.309C>G

1 paper

NM_001374828.1

p.G103D

c.308G>A

1 paper

NM_001374828.1

p.G103insFs

c.308_309insA

1 paper

NM_001374828.1

p.A107_L108delFs

c.321_322delTC

1 paper

NM_001374828.1

p.A107V

c.320C>T

1 paper

NM_001374828.1

p.G103delFs

c.307delG

1 paper

NM_001374828.1

p.G103delFs

c.307_308delGG