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.A425T

c.1273G>A

Surrounding Variants

1 paper

NM_001374828.1

p.A425E

c.1274C>A

1 paper

NM_001374828.1

p.A425V

c.1274C>T

2 papers

NM_001374828.1

p.A426_G435delFs

c.1278_1305del28

1 paper

NM_001374828.1

p.A424V

c.1271C>T

1 paper

NM_001374828.1

p.A424T

c.1270G>A

1 paper

NM_001374828.1

p.A423_A424insFs

c.1269_1270insT

1 paper

NM_001374828.1

p.A431_G439delFs

c.1293_1317del25

2 papers

NM_001374828.1

p.A431_G440delFs

c.1293_1320del28

1 paper

NM_001374828.1

p.A427V

c.1280C>T

3 papers

NM_001374828.1

p.A431_G438delFs

c.1293_1314del22

2 papers

NM_001374828.1

p.A423_A426del0

c.1267_1278del12

1 paper

NM_001374828.1

p.A426_A431del0

c.1278_1292del15