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.A14_R15del1

c.42_44delGCG

Surrounding Variants

1 paper

NM_001374828.1

p.A14insFs

c.42dupG

1 paper

NM_001374828.1

p.A14V

c.41C>T

1 paper

NM_001374828.1

p.A14delFs

c.42delG

1 paper

NM_001374828.1

p.A14T

c.40G>A

1 paper

NM_001374828.1

p.A14P

c.40G>C

1 paper

NM_001374828.1

p.A14S

c.40G>T

1 paper

NM_001374828.1

p.A14delFs

c.41delC

1 paper

NM_001374828.1

p.R15insFs

c.43_44insT

1 paper

NM_001374828.1

p.A13E

c.38C>A

1 paper

NM_001374828.1

p.A13G

c.38C>G

1 paper

NM_001374828.1

p.R15_A16insFs

c.45_46insCG

1 paper

NM_001374828.1

p.R15_A16del1

c.45_47delGGC