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.Y316*

c.948C>G

Surrounding Variants

1 paper

NM_001374828.1

p.N315ins1

c.944_945insCGG

1 paper

NM_001374828.1

p.Y316_P322del7

c.946_965del21

1 paper

NM_001374828.1

p.G318V

c.953G>T

1 paper

NM_001374828.1

p.N315_A323del0

c.943_969del27

1 paper

NM_001374828.1

p.S319_G328del0

c.957_983del27

1 paper

NM_001374828.1

p.N314D

c.940A>G

1 paper

NM_001374828.1

p.S319_A320ins6

c.957_958ins18

1 paper

NM_001374828.1

p.S319_P327del0

c.957_980del24

1 paper

NM_001374828.1

p.S319R

c.957C>A

1 paper

NM_001374828.1

p.A321_P322del2

c.961_965del6

2 papers

NM_001374828.1

p.N314_N315ins0

c.942_944dupTAA

3 papers

NM_001374828.1

p.N315del1

c.943_944delAAT