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.A94_G95insFs

c.282_283insCG

Surrounding Variants

1 paper

NM_001374828.1

p.T96del1

c.286_288delACC

1 paper

NM_001374828.1

p.A94fs

c.280_281fs

1 paper

NM_001374828.1

p.T96S

c.286A>T

1 paper

NM_001374828.1

p.T96S

c.287C>G

1 paper

NM_001374828.1

p.A93S

c.277G>T

1 paper

NM_001374828.1

p.A93delFs

c.279delC

1 paper

NM_001374828.1

p.H97R

c.290A>G

1 paper

NM_001374828.1

p.A92T

c.274G>A

1 paper

NM_001374828.1

p.A92_A93insT

c.274_278ins3

1 paper

NM_001374828.1

p.A91T

c.271G>A

1 paper

NM_001374828.1

p.A90_A91insFs

c.270_271insG

1 paper

NM_001374828.1

p.A91_A92del1

c.273_275delGGC