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.P382insFs

c.1146dupG

Surrounding Variants

2 papers

NM_001374828.1

p.G383fs

c.1147_1148fs

1 paper

NM_001374828.1

p.Y381C

c.1142A>G

1 paper

NM_001374828.1

p.Y384_R386del3

c.1150_1157del9

1 paper

NM_001374828.1

p.Y384insFs

c.1151dupA

2 papers

NM_001374828.1

p.S385_P387delFs

c.1153_1160del8

1 paper

NM_001374828.1

p.S385N

c.1154G>A

2 papers

NM_001374828.1

p.R386_P387insGCA

c.1156_1160ins9

1 paper

NM_001374828.1

p.R386_P387ins6

c.1156_1160ins18

3 papers

NM_001374828.1

p.P387_G400delFs

c.1160_1200del41

1 paper

NM_001374828.1

p.S376R

c.1128C>A

1 paper

NM_001374828.1

p.S376R

c.1128C>G

1 paper

NM_001374828.1

p.G388R

c.1162G>C