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.A331_D336del0

c.993_1007del15

Surrounding Variants

1 paper

NM_001374828.1

p.A331D

c.992C>A

4 papers

NM_001374828.1

p.A331G

c.992C>G

1 paper

NM_001374828.1

p.A331_G332del2

c.991_995del6

1 paper

NM_001374828.1

p.R330P

c.989G>C

1 paper

NM_001374828.1

p.P333ins1

c.997_998insCAG

1 paper

NM_001374828.1

p.P333_D336ins1

c.998_1006dup9

2 papers

NM_001374828.1

p.G329S

c.985G>A

1 paper

NM_001374828.1

p.G329_R330ins0

c.986_988dupGCC

1 paper

NM_001374828.1

p.P333P

c.999T>A

1 paper

NM_001374828.1

p.G329ins1

c.986_987insAGG

1 paper

NM_001374828.1

p.F335delFs

c.1003delT

1 paper

NM_001374828.1

p.G328S

c.982G>A