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

3 papers

NM_001374828.1

p.W1942*

c.5825G>A

Surrounding Variants

3 papers

NM_001374828.1

p.W1942*

c.5826G>A

1 paper

NM_001374828.1

p.W1942_G1947delFs

c.5824_5840del17

5 papers

NM_001374828.1

p.L1944F

c.5830C>T

1 paper

NM_001374828.1

p.L1944L

c.5832C>T

1 paper

NM_001374828.1

p.G1947delFs

c.5840delG

1 paper

NM_001374828.1

p.G1947fs

c.5839_5840fs

1 paper

NM_001374828.1

p.S1937_L1939ins1

c.5811_5816dup6

1 paper

NM_001374828.1

p.D1948G

c.5843A>G

2 papers

NM_001374828.1

p.T1949delFs

c.5845delA

1 paper

NM_001374828.1

p.T1949_T1950insFs

c.5847_5850dup4

1 paper

NM_001374828.1

p.F1935delFs

c.5804_5805delTC

1 paper

NM_001374828.1

p.F1935insFs

c.5803dupT