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.S2166delFs

c.6498delC

Surrounding Variants

1 paper

NM_001374828.1

p.S2166G

c.6496A>G

2 papers

NM_001374828.1

p.E2165K

c.6493G>A

1 paper

NM_001374828.1

p.E2165*

c.6493G>T

1 paper

NM_001374828.1

p.Y2163*

c.6489C>A

1 paper

NM_001374828.1

p.Y2163*

c.6489C>G

1 paper

NM_001374828.1

p.Y2163N

c.6487T>A

1 paper

NM_001374828.1

p.L2172_D2173ins7

c.6514_6518ins21

1 paper

NM_001374828.1

p.D2159N

c.6475G>A

1 paper

NM_001374828.1

p.L2158L

c.6472C>T

1 paper

NM_001374828.1

p.L2176insFs

c.6526dupC

2 papers

NM_001374828.1

p.L2176L

c.6526C>T

1 paper

NM_001374828.1

p.H2177P

c.6530A>C