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.G1406_R1409del4

c.4216_4226del12

Surrounding Variants

2 papers

NM_001374828.1

p.G1406insFs

c.4216_4217ins19

1 paper

NM_001374828.1

p.G1406insFs

c.4216_4217ins19

1 paper

NM_001374828.1

p.G1407*

c.4219G>T

1 paper

NM_001374828.1

p.P1404insFs

c.4212dupC

1 paper

NM_001374828.1

p.M1408fs

c.4222_4223fs

1 paper

NM_001374828.1

p.K1402R

c.4205A>G

1 paper

NM_001374828.1

p.N1401delFs

c.4203delC

1 paper

NM_001374828.1

p.N1401fs

c.4201_4202fs

1 paper

NM_001374828.1

p.N1401insFs

c.4202dupA

1 paper

NM_001374828.1

p.Y1398*

c.4194T>A

1 paper

NM_001374828.1

p.Y1398*

c.4194T>G

1 paper

NM_001374828.1

p.R1395W

c.4183A>T