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

8 papers

NM_001374828.1

p.G339_G340insCAG

c.1015_1019ins9

Surrounding Variants

1 paper

NM_001374828.1

p.G339_G340ins4

c.1015_1019ins12

1 paper

NM_001374828.1

p.G339_G340ins6

c.1015_1019ins18

1 paper

NM_001374828.1

p.Q342K

c.1024C>A

1 paper

NM_001374828.1

p.Q342_M348del0

c.1026_1043del18

1 paper

NM_001374828.1

p.S343_G345del3

c.1027_1034del9

1 paper

NM_001374828.1

p.F335ins3

c.1003_1004ins9

1 paper

NM_001374828.1

p.F335delFs

c.1003delT

1 paper

NM_001374828.1

p.S343_M348del0

c.1029_1043del15

3 papers

NM_001374828.1

p.S343_A352delFs

c.1029_1056del28

2 papers

NM_001374828.1

p.S343_A355delFs

c.1029_1065del37

1 paper

NM_001374828.1

p.P344_S353delFs

c.1030_1057del28

1 paper

NM_001374828.1

p.P344L

c.1031C>T