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

2 papers

NM_001374828.1

p.Q2116_T2117delFs

c.6347_6350del4

Surrounding Variants

1 paper

NM_001374828.1

p.P2115P

c.6345G>A

1 paper

NM_001374828.1

p.P2115S

c.6343C>T

1 paper

NM_001374828.1

p.T2117insFs

c.6349_6350insG

2 papers

NM_001374828.1

p.R2113*

c.6337C>T

1 paper

NM_001374828.1

p.Y2118*

c.6354T>A

1 paper

NM_001374828.1

p.Y2118*

c.6354T>G

1 paper

NM_001374828.1

p.E2119K

c.6355G>A

1 paper

NM_001374828.1

p.K2112delFs

c.6334_6335delAA

1 paper

NM_001374828.1

p.E2121fs

c.6361_6362fs

1 paper

NM_001374828.1

p.E2121_E2122delFs

c.6362_6365del4

3 papers

NM_001374828.1

p.H2108Y

c.6322C>T

1 paper

NM_001374828.1

p.E2124G

c.6371A>G