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.P138L

c.413C>T

Surrounding Variants

1 paper

NM_001374828.1

p.G139R

c.415G>C

1 paper

NM_001374828.1

p.G139D

c.416G>A

1 paper

NM_001374828.1

p.G139G

c.417C>G

1 paper

NM_001374828.1

p.S140T

c.418T>A

1 paper

NM_001374828.1

p.A141T

c.421G>A

1 paper

NM_001374828.1

p.A141S

c.421G>T

1 paper

NM_001374828.1

p.S135L

c.404C>T

1 paper

NM_001374828.1

p.S135delFs

c.405delG

1 paper

NM_001374828.1

p.S135A

c.403T>G

1 paper

NM_001374828.1

p.S135delFs

c.404delC

1 paper

NM_001374828.1

p.S134fs

c.400_401fs

1 paper

NM_001374828.1

p.E143*

c.427G>T