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.A279T

c.835G>A

Surrounding Variants

1 paper

NM_001374828.1

p.A279insFs

c.835_836insA

1 paper

NM_001374828.1

p.G280_G281insVA

c.838_842ins6

1 paper

NM_001374828.1

p.G280A

c.839G>C

1 paper

NM_001374828.1

p.E277delFs

c.831delG

1 paper

NM_001374828.1

p.G276E

c.827G>A

1 paper

NM_001374828.1

p.R282S

c.844C>A

1 paper

NM_001374828.1

p.R282_Y283insCG

c.844_848ins6

1 paper

NM_001374828.1

p.R282C

c.844C>T

1 paper

NM_001374828.1

p.G276R

c.826G>A

1 paper

NM_001374828.1

p.M275L

c.823A>T

2 papers

NM_001374828.1

p.K274_M275ins0

c.821_823dupAGA

1 paper

NM_001374828.1

p.P273P

c.819C>T