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.L261L

c.781C>T

Surrounding Variants

1 paper

NM_001374828.1

p.L261_L262insG

c.781_785ins3

1 paper

NM_001374828.1

p.L261delFs

c.781delC

1 paper

NM_001374828.1

p.P260fs

c.778_779fs

2 papers

NM_001374828.1

p.P260fs

c.778_779fs

1 paper

NM_001374828.1

p.P259T

c.775C>A

1 paper

NM_001374828.1

p.K264R

c.791A>G

1 paper

NM_001374828.1

p.P257Q

c.770C>A

1 paper

NM_001374828.1

p.P257_G258insTA

c.769_773ins6

1 paper

NM_001374828.1

p.P265S

c.793C>T

1 paper

NM_001374828.1

p.P256P

c.768C>A

1 paper

NM_001374828.1

p.P256A

c.766C>G

1 paper

NM_001374828.1

p.P256S

c.766C>T