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.E1899*

c.5695G>T

Surrounding Variants

1 paper

NM_001374828.1

p.K1900R

c.5699A>G

1 paper

NM_001374828.1

p.P1901insFs

c.5703dupC

1 paper

NM_001374828.1

p.K1902*

c.5704A>T

2 papers

NM_001374828.1

p.P1891S

c.5671C>T

1 paper

NM_001374828.1

p.D1908G

c.5723A>G

1 paper

NM_001374828.1

p.T1889insFs

c.5667dupT

1 paper

NM_001374828.1

p.K1909delFs

c.5725delA

2 papers

NM_001374828.1

p.L1888insFs

c.5662dupC

1 paper

NM_001374828.1

p.L1888_P1891del4

c.5662_5672del12

1 paper

NM_001374828.1

p.S1885delFs

c.5654delG

1 paper

NM_001374828.1

p.K1917delFs

c.5750delA

1 paper

NM_001374828.1

p.D1881delFs

c.5641_5642delGA