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.Q550R

c.1649A>G

Surrounding Variants

1 paper

NM_001374828.1

p.Q550L

c.1649A>T

1 paper

NM_001374828.1

p.Q550*

c.1648C>T

2 papers

NM_001374828.1

p.Q550fs

c.1648_1649fs

1 paper

NM_001374828.1

p.Q551fs

c.1651_1652fs

1 paper

NM_001374828.1

p.Q551*

c.1651C>T

1 paper

NM_001374828.1

p.Q551_G557del0

c.1652_1669del18

1 paper

NM_001374828.1

p.Q550_L558delFs

c.1648_1672del25

1 paper

NM_001374828.1

p.Q551_G555del0

c.1653_1664del12

1 paper

NM_001374828.1

p.A553_G557del0

c.1659_1670del12

1 paper

NM_001374828.1

p.A554_D561del0

c.1660_1683del24

1 paper

NM_001374828.1

p.A547fs

c.1639_1640fs

1 paper

NM_001374828.1

p.A547_Q551insFs

c.1641_1651dup11