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.R1925Q

c.5774G>A

Surrounding Variants

1 paper

NM_017519.3

p.R1872delFs

c.5616delA

1 paper

NM_001374828.1

p.R1925*

c.5773C>T

1 paper

NM_017519.3

p.S1873fs

c.5617_5618fs

1 paper

NM_001374828.1

p.S1926_D1927insFs

c.5778_5779ins25

1 paper

NM_001374828.1

p.D1927_L1929ins1

c.5781_5786dup6

1 paper

NM_001374828.1

p.V1923_R1925ins1

c.5769_5774dup6

1 paper

NM_001374828.1

p.G1930delFs

c.5789delG

1 paper

NM_001374828.1

p.F1921_V1923ins1

c.5763_5768dup6

1 paper

NM_001374828.1

p.L1920_V1922ins1

c.5760_5765dup6

1 paper

NM_001374828.1

p.F1921_V1922delFs

c.5763_5766del4

2 papers

NM_001374828.1

p.R1931C

c.5791C>T

1 paper

NM_001374828.1

p.R1931H

c.5792G>A