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.G62V

c.185G>T

Surrounding Variants

2 papers

NM_001374828.1

p.D63_H73del11

c.187_218del33

1 paper

NM_001374828.1

p.D63N

c.187G>A

1 paper

NM_001374828.1

p.G67del1

c.199_200delGGC

1 paper

NM_001374828.1

p.G65_G66del2

c.193_197del6

1 paper

NM_001374828.1

p.G64_G67del4

c.190_200del12

1 paper

NM_001374828.1

p.D63_G64insFs

c.189_190insG

2 papers

NM_001374828.1

p.G64_G65insG

c.190_194ins3

1 paper

NM_001374828.1

p.G60D

c.179G>A

1 paper

NM_001374828.1

p.G60A

c.179G>C

1 paper

NM_001374828.1

p.G64A

c.191G>C

2 papers

NM_001374828.1

p.G60V

c.179G>T

1 paper

NM_001374828.1

p.G64V

c.191G>T