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.Q1992insFs

c.5974dupC

Surrounding Variants

1 paper

NM_001374828.1

p.K1994E

c.5980A>G

1 paper

NM_001374828.1

p.E1989delFs

c.5965_5966delGA

1 paper

NM_001374828.1

p.S1988delFs

c.5963_5964delCT

1 paper

NM_001374828.1

p.D1987Y

c.5959G>T

1 paper

NM_001374828.1

p.I1997delFs

c.5990_5991delTA

2 papers

NM_001374828.1

p.G1986C

c.5956G>T

1 paper

NM_001374828.1

p.A1998_T1999delFs

c.5993_5996del4

1 paper

NM_001374828.1

p.T1999delFs

c.5995delA

2 papers

NM_001374828.1

p.G1984C

c.5950G>T

1 paper

NM_001374828.1

p.D2001Y

c.6001G>T

1 paper

NM_001374828.1

p.Q1982_E1983insG

c.5944_5948ins3

1 paper

NM_001374828.1

p.K1980_Q1982ins1

c.5940_5945dup6