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.P582L

c.1745C>T

Surrounding Variants

1 paper

NM_001374828.1

p.H581R

c.1742A>G

1 paper

NM_001374828.1

p.H581Y

c.1741C>T

1 paper

NM_001374828.1

p.S580delFs

c.1740delT

1 paper

NM_001374828.1

p.S585del1

c.1753_1754delAGC

1 paper

NM_001374828.1

p.R579W

c.1735A>T

1 paper

NM_001374828.1

p.Q577R

c.1730A>G

6 papers

NM_001374828.1

p.Q577*

c.1729C>T

1 paper

NM_001374828.1

p.T588A

c.1762A>G

1 paper

NM_001374828.1

p.A576_Q577del1

c.1728_1730delGCA

1 paper

NM_001374828.1

p.A575fs

c.1723_1724fs

1 paper

NM_001374828.1

p.G590_P591insACA

c.1768_1772ins9

1 paper

NM_001374828.1

p.A575delFs

c.1723delG