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.G347_A352delFs

c.1039_1055del17

Surrounding Variants

1 paper

NM_001374828.1

p.G347_M349delFs

c.1039_1046del8

1 paper

NM_001374828.1

p.G347R

c.1039G>C

1 paper

NM_001374828.1

p.M346K

c.1037T>A

1 paper

NM_001374828.1

p.G347_M348del1

c.1041_1043delGAT

1 paper

NM_001374828.1

p.G347G

c.1041G>A

1 paper

NM_001374828.1

p.M348_S351ins1

c.1043_1051dup9

1 paper

NM_001374828.1

p.G345_M349del0

c.1035_1046del12

1 paper

NM_001374828.1

p.G345_S351delFs

c.1034_1053del20

1 paper

NM_001374828.1

p.M348_A355insFs

c.1044_1065dup22

1 paper

NM_001374828.1

p.M348_A357insFs

c.1044_1071dup28

1 paper

NM_001374828.1

p.M348_M349delFs

c.1044_1045delGA

2 papers

NM_001374828.1

p.M348_A354delFs

c.1044_1062del19