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.P495insFs

c.1484dupC

Surrounding Variants

1 paper

NM_001374828.1

p.H494Y

c.1480C>T

2 papers

NM_001374828.1

p.P495S

c.1483C>T

1 paper

NM_001374828.1

p.Q493R

c.1478A>G

1 paper

NM_001374828.1

p.S496fs

c.1486_1487fs

2 papers

NM_001374828.1

p.A498delFs

c.1492delG

1 paper

NM_001374828.1

p.Q491fs

c.1471_1472fs

1 paper

NM_001374828.1

p.A498S

c.1492G>T

1 paper

NM_001374828.1

p.A498delFs

c.1494delC

1 paper

NM_001374828.1

p.A498fs

c.1492_1493fs

1 paper

NM_001374828.1

p.T499_T501del3

c.1495_1502del9

1 paper

NM_001374828.1

p.G490D

c.1469G>A

1 paper

NM_001374828.1

p.Q491insFs

c.1471dupC