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.D236G

c.707A>G

Surrounding Variants

1 paper

NM_001374828.1

p.M237V

c.709A>G

1 paper

NM_001374828.1

p.P235L

c.704C>T

1 paper

NM_001374828.1

p.M237K

c.710T>A

1 paper

NM_001374828.1

p.M237R

c.710T>G

1 paper

NM_001374828.1

p.E238*

c.712G>T

1 paper

NM_001374828.1

p.P240P

c.720G>C

1 paper

NM_001374828.1

p.Q232_Q239del0

c.695_715del21

1 paper

NM_001374828.1

p.P231L

c.692C>T

1 paper

NM_001374828.1

p.A230T

c.688G>A

1 paper

NM_001374828.1

p.G243_G244insFs

c.729_730insG

1 paper

NM_001374828.1

p.G243G

c.729A>G

1 paper

NM_001374828.1

p.G228D

c.683G>A