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.N2153Y

c.6457A>T

Surrounding Variants

1 paper

NM_001374828.1

p.I2154T

c.6461T>C

4 papers

NM_001374828.1

p.S2155_L2158delFs

c.6463_6473del11

7 papers

NM_001374828.1

p.S2155fs

c.6463_6464fs

2 papers

NM_001374828.1

p.S2155F

c.6464C>T

1 paper

NM_001374828.1

p.T2150M

c.6449C>T

1 paper

NM_001374828.1

p.L2148F

c.6444G>T

1 paper

NM_001374828.1

p.L2148_V2149Fs

c.6444_6446delinsTGTGCAGAAAFs

1 paper

NM_001374828.1

p.L2158L

c.6472C>T

1 paper

NM_001374828.1

p.T2147_L2148insAC

c.6439_6443ins6

1 paper

NM_001374828.1

p.D2159N

c.6475G>A

3 papers

NM_001374828.1

p.T2147insFs

c.6439dupA

1 paper

NM_001374828.1

p.D2145delFs

c.6435delT