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.T2056S

c.6166A>T

Surrounding Variants

1 paper

NM_001374828.1

p.T2056A

c.6166A>G

1 paper

NM_001374828.1

p.T2056S

c.6167C>G

4 papers

NM_001374828.1

p.C2055Y

c.6164G>A

1 paper

NM_001374828.1

p.L2054insFs

c.6161dupT

1 paper

NM_001374828.1

p.A2058S

c.6172G>T

1 paper

NM_001374828.1

p.A2058insFs

c.6174dupG

1 paper

NM_001374828.1

p.P2053S

c.6157C>T

1 paper

NM_001374828.1

p.W2060*

c.6179G>A

1 paper

NM_001374828.1

p.W2060*

c.6180G>A

1 paper

NM_001374828.1

p.Q2061*

c.6181C>T

1 paper

NM_001374828.1

p.D2050N

c.6148G>A

1 paper

NM_001374828.1

p.D2062Y

c.6184G>T