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.Q192*

c.574C>T

Surrounding Variants

1 paper

NM_001374828.1

p.L193Q

c.578T>A

1 paper

NM_001374828.1

p.L189L

c.567A>T

1 paper

NM_001374828.1

p.N194I

c.581A>T

1 paper

NM_001374828.1

p.L189_Q190insG

c.565_569ins3

1 paper

NM_001374828.1

p.F196_Q197ins8

c.588_589ins24

1 paper

NM_001374828.1

p.Q197ins1

c.590_591insACA

1 paper

NM_001374828.1

p.Q203_Q204ins0

c.609_611dupGCA

1 paper

NM_001374828.1

p.Q206_Q214ins3

c.618_641dup24

1 paper

NM_001374828.1

p.Q199_Q201del3

c.595_602del9

1 paper

NM_001374828.1

p.H187_Q192del0

c.559_576del18

1 paper

NM_001374828.1

p.H187delFs

c.559delC

1 paper

NM_001374828.1

p.Q197H

c.591G>C