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.V2095M

c.6283G>A

Surrounding Variants

1 paper

NM_001374828.1

p.V2095V

c.6285G>T

1 paper

NM_001374828.1

p.P2092Q

c.6275C>A

1 paper

NM_001374828.1

p.L2098R

c.6293T>G

1 paper

NM_001374828.1

p.H2091P

c.6272A>C

1 paper

NM_001374828.1

p.H2091R

c.6272A>G

1 paper

NM_001374828.1

p.M2088T

c.6263T>C

1 paper

NM_001374828.1

p.E2087*

c.6259G>T

2 papers

NM_001374828.1

p.A2086_E2087ins4

c.6256_6260ins12

1 paper

NM_001374828.1

p.H2106delFs

c.6316delC

1 paper

NM_001374828.1

p.N2084T

c.6251A>C

1 paper

NM_001374828.1

p.H2106R

c.6317A>G

1 paper

NM_001374828.1

p.G2083delFs

c.6249delC