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.A161S

c.481G>T

Surrounding Variants

1 paper

NM_001374828.1

p.A161fs

c.481_482fs

1 paper

NM_001374828.1

p.A161_H167del7

c.481_500del21

1 paper

NM_001374828.1

p.A161_P162ins1

c.483_484insGGC

1 paper

NM_001374828.1

p.P162A

c.484C>G

1 paper

NM_001374828.1

p.P162S

c.484C>T

1 paper

NM_001374828.1

p.A160T

c.478G>A

1 paper

NM_001374828.1

p.P163delFs

c.487delC

1 paper

NM_001374828.1

p.A158V

c.473C>T

3 papers

NM_001374828.1

p.H164L

c.491A>T

1 paper

NM_001374828.1

p.E157D

c.471A>T

1 paper

NM_001374828.1

p.Q166del1

c.496_497delCAG

1 paper

NM_001374828.1

p.Q165*

c.493C>T