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

5 papers

NM_001374828.1

p.G449delFs

c.1346delG

Surrounding Variants

1 paper

NM_001374828.1

p.G449_V450ins0

c.1345_1350dup6

3 papers

NM_001374828.1

p.V450ins0

c.1348_1350dupGTG

1 paper

NM_001374828.1

p.V450E

c.1349T>A

1 paper

NM_001374828.1

p.A446A

c.1338G>T

2 papers

NM_001374828.1

p.A446V

c.1337C>T

1 paper

NM_001374828.1

p.L451L

c.1351C>T

4 papers

NM_001374828.1

p.S445ins1

c.1333_1334insCGC

1 paper

NM_001374828.1

p.S445_A446del1

c.1334_1336delCCG

1 paper

NM_001374828.1

p.R455delFs

c.1363delC

2 papers

NM_001374828.1

p.P454S

c.1360C>T

1 paper

NM_001374828.1

p.R455fs

c.1363_1364fs

1 paper

NM_001374828.1

p.Q456_Q457del1

c.1368_1370delGCA