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.A129T

c.385G>A

Surrounding Variants

2 papers

NM_001374828.1

p.A129ins1

c.386_387insGCA

1 paper

NM_001374828.1

p.A129ins2

c.386_387ins6

1 paper

NM_001374828.1

p.A128_A129insFs

c.384_385insC

1 paper

NM_001374828.1

p.A128G

c.383C>G

2 papers

NM_001374828.1

p.A128S

c.382G>T

1 paper

NM_001374828.1

p.A130_S132del0

c.390_395del6

1 paper

NM_001374828.1

p.A128_A129del1

c.384_386delGGC

1 paper

NM_001374828.1

p.A130V

c.389C>T

1 paper

NM_001374828.1

p.A127T

c.379G>A

1 paper

NM_001374828.1

p.S131F

c.392C>T

1 paper

NM_001374828.1

p.A127delFs

c.379delG

1 paper

NM_001374828.1

p.A126S

c.376G>T