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.G2009A

c.6026G>C

Surrounding Variants

1 paper

NM_001374820.1

p.A1970S

c.5908G>T

1 paper

NM_001374828.1

p.L2011V

c.6031T>G

1 paper

NM_001374828.1

p.L2011fs

c.6031_6032fs

2 papers

NM_001374828.1

p.A2006V

c.6017C>T

1 paper

NM_001374828.1

p.D2001Y

c.6001G>T

1 paper

NM_001374828.1

p.T1999delFs

c.5995delA

1 paper

NM_001374828.1

p.A1998_T1999delFs

c.5993_5996del4

1 paper

NM_001374828.1

p.I1997delFs

c.5990_5991delTA

1 paper

NM_001374828.1

p.E2022K

c.6064G>A

1 paper

NM_001374828.1

p.S2024insFs

c.6072dupT

1 paper

NM_001374828.1

p.K1994E

c.5980A>G

1 paper

NM_001374828.1

p.K2025*

c.6073A>T