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

6 papers

NM_001374828.1

p.R4R

c.12G>C

Surrounding Variants

2 papers

NM_001374828.1

p.R4R

c.12G>A

1 paper

NM_001374828.1

p.A5T

c.13G>A

1 paper

NM_001374828.1

p.A6_A9ins1

c.17_25dup9

1 paper

NM_001374828.1

p.A5A

c.15A>C

1 paper

NM_001374828.1

p.A5A

c.15A>G

1 paper

NM_001374828.1

p.A5A

c.15A>T

1 paper

NM_001374828.1

p.A6Fs

c.18delinsCAFs

1 paper

NM_001374828.1

p.A6_A7ins1

c.18_19insGCG

1 paper

NM_001374828.1

p.A6_A7ins3

c.18_19ins9

1 paper

NM_001374828.1

p.A6A

c.18A>G

1 paper

NM_001374828.1

p.A6A

c.18A>T

1 paper

NM_001374828.1

p.A3insFs

c.7dupG