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.V1366V

c.4098G>A

Surrounding Variants

1 paper

NM_001374828.1

p.V1366A

c.4097T>C

1 paper

NM_001374828.1

p.V1366M

c.4096G>A

1 paper

NM_001374828.1

p.V1366_S1367delFs

c.4097_4101del5

1 paper

NM_001374828.1

p.D1368_S1370del3

c.4102_4109del9

1 paper

NM_001374828.1

p.V1366_S1370del5

c.4096_4109del15

1 paper

NM_001374828.1

p.D1368Y

c.4102G>T

1 paper

NM_001374828.1

p.D1365N

c.4093G>A

1 paper

NM_001374828.1

p.S1369_S1370delFs

c.4105_4109del5

1 paper

NM_001374828.1

p.S1364_D1365del2

c.4090_4094del6

1 paper

NM_001374828.1

p.S1370insFs

c.4109dupC

2 papers

NM_001374828.1

p.S1370delFs

c.4109delC

1 paper

NM_001374828.1

p.P1362fs

c.4084_4085fs