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.K2034E

c.6100A>G

Surrounding Variants

1 paper

NM_001374828.1

p.A2033T

c.6097G>A

1 paper

NM_001374828.1

p.Q2031*

c.6091C>T

1 paper

NM_001374828.1

p.R2037W

c.6109C>T

1 paper

NM_001374828.1

p.R2037_E2043delFs

c.6111_6129del19

1 paper

NM_001374828.1

p.I2030delFs

c.6090delC

1 paper

NM_001374828.1

p.G2029fs

c.6085_6086fs

1 paper

NM_001374828.1

p.K2040insFs

c.6118dupA

1 paper

NM_001374828.1

p.K2040_L2042delFs

c.6118_6125del8

1 paper

NM_001374828.1

p.L2041M

c.6121C>A

1 paper

NM_001374828.1

p.K2025*

c.6073A>T

1 paper

NM_001374828.1

p.E2043insFs

c.6127_6128insT

1 paper

NM_001374828.1

p.S2024insFs

c.6072dupT