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.S403T

c.1208G>C

Surrounding Variants

1 paper

NM_001374828.1

p.S403delFs

c.1209delC

1 paper

NM_001374828.1

p.S403G

c.1207A>G

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.G402D

c.1205G>A

1 paper

NM_001374828.1

p.G402_S403delFs

c.1206_1209del4

1 paper

NM_001374828.1

p.G402_G408delFs

c.1206_1224del19

1 paper

NM_001374828.1

p.G405_G406delFs

c.1213_1217del5

1 paper

NM_001374828.1

p.G402del1

c.1204_1205delGGC

1 paper

NM_001374828.1

p.G405R

c.1213G>A