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

3 papers

NM_001374828.1

p.G469R

c.1405G>C

Surrounding Variants

3 papers

NM_001374828.1

p.G469R

c.1405G>A

1 paper

NM_001374828.1

p.G469E

c.1406G>A

1 paper

NM_001374828.1

p.G469A

c.1406G>C

2 papers

NM_001374828.1

p.G469V

c.1406G>T

1 paper

NM_001374828.1

p.A470fs

c.1408_1409fs

1 paper

NM_001374828.1

p.A471T

c.1411G>A

1 paper

NM_001374828.1

p.G467fs

c.1399_1400fs

1 paper

NM_001374828.1

p.A470_G483delFs

c.1409_1449del41

1 paper

NM_001374828.1

p.G466E

c.1397G>A

1 paper

NM_001374828.1

p.G466A

c.1397G>C

1 paper

NM_001374828.1

p.G466V

c.1397G>T

2 papers

NM_001374828.1

p.G464V

c.1391G>T