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.A431S

c.1291G>T

Surrounding Variants

1 paper

NM_001374828.1

p.A431V

c.1292C>T

1 paper

NM_001374828.1

p.A431ins1

c.1292_1293insCGC

2 papers

NM_001374828.1

p.A432fs

c.1294_1295fs

1 paper

NM_001374828.1

p.A430_Y441del12

c.1288_1322del36

1 paper

NM_001374828.1

p.A429V

c.1286C>T

1 paper

NM_001374828.1

p.A433fs

c.1297_1298fs

1 paper

NM_001374828.1

p.A433_G447delFs

c.1299_1339del41

4 papers

NM_001374828.1

p.A431_G437delFs

c.1293_1311del19

6 papers

NM_001374828.1

p.G434fs

c.1300_1301fs

2 papers

NM_001374828.1

p.G440del1

c.1318_1319delGGC

1 paper

NM_001374828.1

p.A427V

c.1280C>T

3 papers

NM_001374828.1

p.A431_G438delFs

c.1293_1314del22