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.S113N

c.338G>A

Surrounding Variants

2 papers

NM_001374828.1

p.A114del1

c.340_342delGCC

2 papers

NM_001374828.1

p.S113C

c.337A>T

1 paper

NM_001374828.1

p.S113R

c.339C>A

8 papers

NM_001374828.1

p.S113_A114ins1

c.339_340insCAG

1 paper

NM_001374828.1

p.S113_A114ins2

c.339_340ins6

3 papers

NM_001374828.1

p.S113_A114ins8

c.339_340ins24

1 paper

NM_001374828.1

p.S113_A114insFs

c.339_340ins4

1 paper

NM_001374828.1

p.A115_S123del9

c.343_368del27

1 paper

NM_001374828.1

p.G112*

c.334G>T

2 papers

NM_001374828.1

p.A115_S121del0

c.345_362del18

1 paper

NM_001374828.1

p.E110E

c.330G>A

1 paper

NM_001374828.1

p.E110D

c.330G>C