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.M556_K560del0

c.1668_1679del12

Surrounding Variants

1 paper

NM_001374828.1

p.M556_G557del1

c.1668_1670delGGG

1 paper

NM_001374828.1

p.M556_L558del0

c.1667_1672del6

1 paper

NM_001374828.1

p.M556_D561del0

c.1667_1681del15

1 paper

NM_001374828.1

p.G557_M562del6

c.1669_1685del18

1 paper

NM_001374828.1

p.G557_M562del0

c.1671_1685del15

1 paper

NM_001374828.1

p.L558_A572del0

c.1673_1714del42

1 paper

NM_001374828.1

p.A554V

c.1661C>T

1 paper

NM_001374828.1

p.A554_G563del0

c.1662_1688del27

1 paper

NM_001374828.1

p.G559_Q565del0

c.1675_1695del21

1 paper

NM_001374828.1

p.G559del1

c.1675_1677delGGC

1 paper

NM_001374828.1

p.A553_G557del0

c.1659_1670del12

1 paper

NM_001374828.1

p.A554_D561del0

c.1660_1683del24