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

6 papers

NM_001374828.1

p.A412insFs

c.1235dupC

Surrounding Variants

1 paper

NM_001374828.1

p.A412V

c.1235C>T

1 paper

NM_001374828.1

p.A414_G416del0

c.1241_1246del6

2 papers

NM_001374828.1

p.G415delFs

c.1243delG

2 papers

NM_001374828.1

p.G409_A414del0

c.1227_1241del15

1 paper

NM_001374828.1

p.G415*

c.1243G>T

1 paper

NM_001374828.1

p.G408G

c.1224A>T

1 paper

NM_001374828.1

p.G415ins2

c.1244_1245ins6

1 paper

NM_001374828.1

p.G416_V422delFs

c.1247_1266del20

1 paper

NM_001374828.1

p.G416R

c.1246G>C

5 papers

NM_001374828.1

p.G408insFs

c.1222dupG

1 paper

NM_001374828.1

p.G407A

c.1220G>C

1 paper

NM_001374828.1

p.A417T

c.1249G>A