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.D270_A271insG

c.808_812ins3

Surrounding Variants

2 papers

NM_001374828.1

p.D270_A271del2

c.808_812del6

1 paper

NM_001374828.1

p.A271del1

c.811_812delGCG

1 paper

NM_001374828.1

p.A271S

c.811G>T

3 papers

NM_001374828.1

p.D269_D270del1

c.806_808delACG

1 paper

NM_001374828.1

p.D269_D270del2

c.805_809del6

1 paper

NM_001374828.1

p.P273_M275del3

c.817_824del9

1 paper

NM_001374828.1

p.P273S

c.817C>T

2 papers

NM_001374828.1

p.K274_M275ins0

c.821_823dupAGA

1 paper

NM_001374828.1

p.P273P

c.819C>T

2 papers

NM_001374828.1

p.K274_M275del1

c.821_823delAGA

1 paper

NM_001374828.1

p.K274_M275delFs

c.820_823del4

1 paper

NM_001374828.1

p.D267_D269del3

c.799_806del9