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

2 papers

NM_001374828.1

p.G328_G329del1

c.983_985delGCG

Surrounding Variants

1 paper

NM_001374828.1

p.P327_G329del0

c.980_985del6

1 paper

NM_001374828.1

p.G328_P333del6

c.982_998del18

1 paper

NM_001374828.1

p.G328S

c.982G>A

1 paper

NM_001374828.1

p.G328R

c.982G>C

1 paper

NM_001374828.1

p.G328_C334del0

c.983_1000del18

1 paper

NM_001374828.1

p.G326D

c.977G>A

2 papers

NM_001374828.1

p.G326A

c.977G>C

1 paper

NM_001374828.1

p.G326ins5

c.977_978ins15

1 paper

NM_001374828.1

p.G326_A331del0

c.978_992del15

1 paper

NM_001374828.1

p.G329ins1

c.986_987insAGG

1 paper

NM_001374828.1

p.G326fs

c.976_977fs

2 papers

NM_001374828.1

p.G326_A331del6

c.976_992del18