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.H187_Q192del0

c.559_576del18

Surrounding Variants

1 paper

NM_001374828.1

p.H187delFs

c.559delC

1 paper

NM_001374828.1

p.H186_A188del0

c.557_562del6

1 paper

NM_001374828.1

p.H187_L189delFs

c.559_565del7

1 paper

NM_001374828.1

p.H185_Q191delFs

c.555_573del19

1 paper

NM_001374828.1

p.H184R

c.551A>G

1 paper

NM_001374828.1

p.L189_Q190insG

c.565_569ins3

1 paper

NM_001374828.1

p.L189L

c.567A>T

1 paper

NM_001374828.1

p.L183F

c.547C>T

1 paper

NM_001374828.1

p.Q192*

c.574C>T

1 paper

NM_001374828.1

p.A180A

c.540C>G

1 paper

NM_001374828.1

p.L193Q

c.578T>A

1 paper

NM_001374828.1

p.H179L

c.536A>T