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.L2212F

c.6634C>T

Surrounding Variants

2 papers

NM_001374828.1

p.K2211R

c.6632A>G

1 paper

NM_001374828.1

p.L2209L

c.6627C>T

1 paper

NM_001374828.1

p.Q2215*

c.6643C>T

1 paper

NM_001374828.1

p.Q2215delFs

c.6644delA

1 paper

NM_001374828.1

p.D2216_I2222del7

c.6646_6665del21

1 paper

NM_001374828.1

p.L2206P

c.6617T>C

1 paper

NM_001374828.1

p.V2219_D2220delFs

c.6657_6658delGG

1 paper

NM_001374828.1

p.V2219V

c.6657G>T

1 paper

NM_001374828.1

p.D2220A

c.6659A>C

2 papers

NM_001374828.1

p.L2221delFs

c.6661_6662delCT

1 paper

NM_001374828.1

p.R2203K

c.6608G>A

1 paper

NM_001374828.1

p.R2203*

c.6607A>T