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.A352S

c.1054G>T

Surrounding Variants

1 paper

NM_001374828.1

p.A352T

c.1054G>A

1 paper

NM_001374828.1

p.A352A

c.1056C>A

3 papers

NM_001374828.1

p.S351_A352ins1

c.1053_1054insGGC

1 paper

NM_001374828.1

p.S351C

c.1052C>G

4 papers

NM_001374828.1

p.A357del1

c.1069_1071delGCC

1 paper

NM_001374828.1

p.A352_A354del3

c.1054_1061del9

1 paper

NM_001374828.1

p.S351_S362del12

c.1051_1085del36

1 paper

NM_001374828.1

p.H350_S351ins0

c.1049_1051dupACT

1 paper

NM_001374828.1

p.A354_A355ins6

c.1060_1064ins18

1 paper

NM_001374828.1

p.A355T

c.1063G>A

1 paper

NM_001374828.1

p.A355V

c.1064C>T

1 paper

NM_001374828.1

p.M348_A355insFs

c.1044_1065dup22