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.A250_G252del3

c.748_755del9

Surrounding Variants

1 paper

NM_001374828.1

p.A249D

c.746C>A

2 papers

NM_001374828.1

p.S248_A249ins1

c.744_745insGGC

1 paper

NM_001374828.1

p.G251S

c.751G>A

1 paper

NM_001374828.1

p.S248_A249insG

c.742_746ins3

1 paper

NM_001374828.1

p.G251D

c.752G>A

1 paper

NM_001374828.1

p.G251A

c.752G>C

1 paper

NM_001374828.1

p.G252delFs

c.754delG

1 paper

NM_001374828.1

p.K246*

c.736A>T

1 paper

NM_001374828.1

p.D255N

c.763G>A

2 papers

NM_001374828.1

p.P257insFs

c.770dupC

1 paper

NM_001374828.1

p.D255G

c.764A>G

1 paper

NM_001374828.1

p.G243_G244insFs

c.729_730insG