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.V2075I

c.6223G>A

Surrounding Variants

1 paper

NM_001374828.1

p.V2075G

c.6224T>G

1 paper

NM_001374820.1

p.I2034V

c.6100A>G

1 paper

NM_001374828.1

p.N2073S

c.6218A>G

5 papers

NM_001374828.1

p.L2078delFs

c.6233delT

1 paper

NM_001374828.1

p.L2078_S2079insA

c.6232_6236ins3

1 paper

NM_001374828.1

p.L2078S

c.6233T>C

1 paper

NM_001371656.1

p.V2031A

c.6092T>C

1 paper

NM_001374828.1

p.G2083delFs

c.6249delC

1 paper

NM_001374828.1

p.K2066delFs

c.6198delG

1 paper

NM_001374828.1

p.N2084T

c.6251A>C

1 paper

NM_001374828.1

p.A2065delFs

c.6194delC

1 paper

NM_001374828.1

p.L2064L

c.6190C>T