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

2 papers

NM_001374828.1

p.G458D

c.1373G>A

Surrounding Variants

1 paper

NM_001374828.1

p.G458_G464delFs

c.1374_1392del19

1 paper

NM_001374828.1

p.G458_M461del0

c.1373_1381del9

1 paper

NM_001374828.1

p.G459_M461del0

c.1376_1381del6

1 paper

NM_001374828.1

p.G459D

c.1376G>A

2 papers

NM_001374828.1

p.G460_G466delFs

c.1380_1398del19

1 paper

NM_001374828.1

p.G460_M461ins0

c.1379_1381dupGCA

1 paper

NM_001374828.1

p.G460_P465del0

c.1379_1393del15

1 paper

NM_001374828.1

p.Q456P

c.1367A>C

1 paper

NM_001374828.1

p.Q456*

c.1366C>T

1 paper

NM_001374828.1

p.Q456fs

c.1366_1367fs

1 paper

NM_001374828.1

p.M461_G464delFs

c.1382_1391del10

1 paper

NM_001374828.1

p.R455R

c.1365G>A