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.L2143S

c.6428T>C

Surrounding Variants

1 paper

NM_001374828.1

p.R2144K

c.6431G>A

1 paper

NM_001374828.1

p.D2145delFs

c.6435delT

3 papers

NM_001374828.1

p.T2147insFs

c.6439dupA

1 paper

NM_001374828.1

p.T2147_L2148insAC

c.6439_6443ins6

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.W2137*

c.6411G>A

1 paper

NM_001374828.1

p.W2137*

c.6410G>A

1 paper

NM_001374828.1

p.W2137delFs

c.6411delG

1 paper

NM_001374828.1

p.W2136*

c.6408G>A

1 paper

NM_001374828.1

p.T2150M

c.6449C>T

1 paper

NM_001374828.1

p.W2136*

c.6407G>A