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.G36_A37del2

c.106_110del6

Surrounding Variants

1 paper

NM_001374828.1

p.P35S

c.103C>T

1 paper

NM_001374828.1

p.P35L

c.104C>T

2 papers

NM_001374828.1

p.A34_P35ins1

c.102_103insTCC

2 papers

NM_001374828.1

p.P35del1

c.103_105delCCC

1 paper

NM_001374828.1

p.A34V

c.101C>T

1 paper

NM_001374828.1

p.P33Q

c.98C>A

1 paper

NM_001374828.1

p.P33L

c.98C>T

1 paper

NM_001374828.1

p.A37T

c.109G>A

1 paper

NM_001374828.1

p.A37V

c.110C>T

1 paper

NM_001374828.1

p.R38_D39insH

c.112_116ins3

1 paper

NM_001374828.1

p.D39delFs

c.115delG

1 paper

NM_001374828.1

p.D39_E41ins1

c.115_123dup9