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.R487delFs

c.1459delC

Surrounding Variants

1 paper

NM_001374828.1

p.Q486fs

c.1456_1457fs

2 papers

NM_001374828.1

p.F485fs

c.1453_1454fs

1 paper

NM_001374828.1

p.A489T

c.1465G>A

1 paper

NM_001374828.1

p.G484delFs

c.1452delC

1 paper

NM_001374828.1

p.G484insFs

c.1451_1452dupGC

1 paper

NM_001374828.1

p.G484fs

c.1450_1451fs

1 paper

NM_001374828.1

p.G490_Q491delFs

c.1468_1472del5

1 paper

NM_001374828.1

p.G490S

c.1468G>A

1 paper

NM_001374828.1

p.G490D

c.1469G>A

1 paper

NM_001374828.1

p.Q491insFs

c.1471dupC

1 paper

NM_001374828.1

p.G483_G484insGGC

c.1447_1451ins9

1 paper

NM_001374828.1

p.G484insFs

c.1451dupG