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

2 papers

NM_001374828.1

p.G406R

c.1216G>A

Surrounding Variants

2 papers

NM_001374828.1

p.G406R

c.1216G>C

1 paper

NM_001374828.1

p.G405_G408delFs

c.1215_1224del10

1 paper

NM_001374828.1

p.G405R

c.1213G>A

1 paper

NM_001374828.1

p.G405_G406delFs

c.1213_1217del5

1 paper

NM_001374828.1

p.G407A

c.1220G>C

5 papers

NM_001374828.1

p.G408insFs

c.1222dupG

2 papers

NM_001374828.1

p.S403_G404ins1

c.1209_1210insGGA

1 paper

NM_001374828.1

p.G411del1

c.1231_1232delGGA

2 papers

NM_001374828.1

p.G404_G405del0

c.1210_1215del6

1 paper

NM_001374828.1

p.G409_A412del0

c.1226_1234del9

1 paper

NM_001374828.1

p.G408G

c.1224A>T

1 paper

NM_001374828.1

p.S403T

c.1208G>C