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.A90_A91delFs

c.270_271delCG

Surrounding Variants

1 paper

NM_001374828.1

p.A90V

c.269C>T

1 paper

NM_001374828.1

p.A90_A91insFs

c.270_271insG

1 paper

NM_001374828.1

p.A91_A92del1

c.273_275delGGC

2 papers

NM_001374828.1

p.A90P

c.268G>C

1 paper

NM_001374828.1

p.A90delFs

c.269_270delCC

1 paper

NM_001374828.1

p.A91_A92del2

c.271_275del6

1 paper

NM_001374828.1

p.A91T

c.271G>A

1 paper

NM_001374828.1

p.G89D

c.266G>A

1 paper

NM_001374828.1

p.G89V

c.266G>T

3 papers

NM_001374828.1

p.A90del1

c.268_269delGCC

1 paper

NM_001374828.1

p.A92T

c.274G>A

1 paper

NM_001374828.1

p.A92_A93insT

c.274_278ins3