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

1–12 of 1994 variants

8 papers

NM_001374828.1

p.S113_A114ins1

c.339_340insCAG

8 papers

NM_001374828.1

p.G339_G340insCAG

c.1015_1019ins9

7 papers

NM_001374828.1

p.G464_G468delFs

c.1392_1402del11

7 papers

NM_001374828.1

p.V1392_K1402del11

c.4174_4205del33

7 papers

NM_001374828.1

p.S2155fs

c.6463_6464fs

6 papers

NM_001374828.1

p.R4R

c.12G>C

6 papers

NM_001374828.1

p.S122del1

c.364_366delTCC

6 papers

NM_001374828.1

p.A412insFs

c.1235dupC

6 papers

NM_001374828.1

p.G434fs

c.1300_1301fs

6 papers

NM_001374828.1

p.M463_G466delFs

c.1389_1398del10

6 papers

NM_001374828.1

p.Q577*

c.1729C>T

6 papers

NM_001374828.1

p.M1389_Y1398del10

c.4165_4193del30