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.Q1798_L1799Splc

c.5395-2A>C

Surrounding Variants

1 paper

NM_001374828.1

p.L1803R

c.5408T>G

1 paper

NM_001374828.1

p.E1804*

c.5410G>T

1 paper

NM_001374828.1

p.I1820delFs

c.5458delA

1 paper

NM_001374828.1

p.M1822K

c.5465T>A

1 paper

NM_001374828.1

p.E1823delFs

c.5467delG

1 paper

NM_001374828.1

p.V1826delFs

c.5476delG

1 paper

NM_001374828.1

p.V1826M

c.5476G>A

1 paper

NM_001374828.1

p.V1826A

c.5477T>C

1 paper

NM_001374828.1

p.G1827E

c.5480G>A

1 paper

NM_001374828.1

p.D1828_P1829insFs

c.5484_5485insG

1 paper

NM_001374828.1

p.A1833_L1834insFs

c.5499_5500insC

1 paper

NM_001374828.1

p.H1836N

c.5506C>A