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.L2176insFs

c.6526dupC

Surrounding Variants

2 papers

NM_001374828.1

p.L2176L

c.6526C>T

1 paper

NM_001374828.1

p.H2177P

c.6530A>C

1 paper

NM_001374828.1

p.W2178insFs

c.6532_6533insT

1 paper

NM_001374828.1

p.H2177H

c.6531C>T

1 paper

NM_001374828.1

p.W2178*

c.6533G>A

2 papers

NM_001374828.1

p.W2178*

c.6534G>A

1 paper

NM_001374828.1

p.L2172_D2173ins7

c.6514_6518ins21

1 paper

NM_001374828.1

p.V2180_S2183delFs

c.6540_6547del8

1 paper

NM_001374828.1

p.P2182insFs

c.6545dupC

1 paper

NM_001374828.1

p.S2166delFs

c.6498delC

1 paper

NM_001374828.1

p.S2166G

c.6496A>G

1 paper

NM_001374828.1

p.A2186V

c.6557C>T