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.Y373F

c.1118A>T

Surrounding Variants

1 paper

NM_001374828.1

p.N375_R386del12

c.1123_1157del36

2 papers

NM_001374828.1

p.G372insFs

c.1114dupG

1 paper

NM_001374828.1

p.E371K

c.1111G>A

1 paper

NM_001374828.1

p.S376R

c.1126A>C

1 paper

NM_001374828.1

p.S376N

c.1127G>A

1 paper

NM_001374828.1

p.S376R

c.1128C>A

1 paper

NM_001374828.1

p.S376R

c.1128C>G

1 paper

NM_001374828.1

p.H370_G372del3

c.1108_1115del9

1 paper

NM_001374828.1

p.H370_Y373del4

c.1108_1118del12

1 paper

NM_001374828.1

p.N368Y

c.1102A>T

1 paper

NM_001374828.1

p.Q367*

c.1099C>T

1 paper

NM_001374828.1

p.Q367insFs

c.1099dupC