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.L2286R

c.6857T>G

Surrounding Variants

2 papers

NM_017519.3

p.E2234delFs

c.6700_6701delGA

1 paper

NM_001374828.1

p.E2287*

c.6859G>T

1 paper

NM_001374828.1

p.G2289_A2293delFs

c.6867_6877del11

1 paper

NM_001374828.1

p.Q2294*

c.6880C>T

1 paper

NM_001374828.1

p.Q2296_Q2297insC

c.6886_6890ins3

1 paper

NM_001374828.1

p.Q2296fs

c.6886_6887fs

1 paper

NM_001374828.1

p.Q2275delFs

c.6824delA

1 paper

NM_001374828.1

p.Q2275fs

c.6823_6824fs

1 paper

NM_001374828.1

p.Q2299*

c.6895C>T

2 papers

NM_001374820.1

p.V2234delFs

c.6700_6701delGT

NM_001374828.1

p.V2274delFs

c.6820_6821delGT

1 paper

NM_001374828.1

p.R2270fs

c.6808_6809fs

2 papers

NM_001374828.1

p.R2270insFs

c.6808dupA