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.A321_P322del2

c.961_965del6

Surrounding Variants

1 paper

NM_001374828.1

p.S319R

c.957C>A

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.A320_A321ins1

c.960_961insGGA

1 paper

NM_001374828.1

p.A321del1

c.961_963delGCC

1 paper

NM_001374828.1

p.A321_A323del3

c.961_968del9

1 paper

NM_001374828.1

p.S319_G328del0

c.957_983del27

1 paper

NM_001374828.1

p.G318V

c.953G>T

1 paper

NM_001374828.1

p.Y316*

c.948C>G

1 paper

NM_001374828.1

p.G325_G329del0

c.974_985del12

1 paper

NM_001374828.1

p.S324N

c.971G>A

1 paper

NM_001374828.1

p.N315ins1

c.944_945insCGG