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.P286_L288del3

c.856_863del9

Surrounding Variants

1 paper

NM_001374828.1

p.G287D

c.860G>A

1 paper

NM_001374828.1

p.G287G

c.861C>G

1 paper

NM_001374828.1

p.L288M

c.862T>A

1 paper

NM_001374828.1

p.R282S

c.844C>A

1 paper

NM_001374828.1

p.R282_Y283insCG

c.844_848ins6

1 paper

NM_001374828.1

p.R282C

c.844C>T

1 paper

NM_001374828.1

p.A290_Q294delFs

c.870_880del11

1 paper

NM_001374828.1

p.A290D

c.869C>A

1 paper

NM_001374828.1

p.A290G

c.869C>G

1 paper

NM_001374828.1

p.G280A

c.839G>C

1 paper

NM_001374828.1

p.G280_G281insVA

c.838_842ins6

1 paper

NM_001374828.1

p.A279T

c.835G>A