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.E2232V

c.6695A>T

Surrounding Variants

5 papers

NM_001374828.1

p.F2234delFs

c.6700_6701delTT

1 paper

NM_001374828.1

p.Q2231*

c.6691C>T

1 paper

NM_001374828.1

p.A2236delFs

c.6706delG

1 paper

NM_001374828.1

p.V2239_R2240delFs

c.6716_6719del4

1 paper

NM_001374828.1

p.V2239fs

c.6715_6716fs

2 papers

NM_001374828.1

p.V2242I

c.6724G>A

3 papers

NM_001374828.1

p.V2242_D2244delFs

c.6726_6730del5

1 paper

NM_001374828.1

p.L2221P

c.6662T>C

1 paper

NM_001374828.1

p.L2221insFs

c.6661_6662insG

2 papers

NM_001374828.1

p.L2221fs

c.6661_6662fs

2 papers

NM_001374828.1

p.L2221delFs

c.6661_6662delCT

1 paper

NM_001374828.1

p.D2220A

c.6659A>C