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.A49V

c.146C>T

Surrounding Variants

1 paper

NM_001374828.1

p.A51G

c.152C>G

1 paper

NM_001374828.1

p.A52_A53delFs

c.154_157del4

1 paper

NM_001374828.1

p.A52V

c.155C>T

1 paper

NM_001374828.1

p.A53_G66del14

c.157_197del42

1 paper

NM_001374828.1

p.P54Q

c.161C>A

2 papers

NM_001374828.1

p.R45_A47ins1

c.133_141dup9

1 paper

NM_001374828.1

p.G55_P56insQ

c.163_167ins3

2 papers

NM_001374828.1

p.R45_A47del0

c.133_141del9

1 paper

NM_001374828.1

p.G43_A44insT

c.127_131ins3

1 paper

NM_001374828.1

p.A42V

c.125C>T

2 papers

NM_001374828.1

p.A42T

c.124G>A

1 paper

NM_001374828.1

p.A42fs

c.124_125fs