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.S22fs

c.64_65fs

Surrounding Variants

1 paper

NM_001374828.1

p.S22insFs

c.64_65insG

2 papers

NM_001374828.1

p.S22insFs

c.64_65insT

1 paper

NM_001374828.1

p.S22delFs

c.65_66delGC

1 paper

NM_001374828.1

p.S22insFs

c.64dupA

1 paper

NM_001374828.1

p.S22I

c.65G>T

2 papers

NM_001374828.1

p.G21_R25delFs

c.63_73del11

1 paper

NM_001374828.1

p.E24D

c.72A>T

1 paper

NM_001374828.1

p.R25W

c.73C>T

1 paper

NM_001374828.1

p.A18G

c.53C>G

1 paper

NM_001374828.1

p.A18V

c.53C>T

1 paper

NM_001374828.1

p.A18T

c.52G>A

2 papers

NM_001374828.1

p.A18P

c.52G>C