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.G393S

c.1177G>A

Surrounding Variants

1 paper

NM_001374828.1

p.G392C

c.1174G>T

1 paper

NM_001374828.1

p.G391A

c.1172G>C

1 paper

NM_001374828.1

p.G395S

c.1183G>A

2 papers

NM_001374828.1

p.G396D

c.1187G>A

1 paper

NM_001374828.1

p.G396_G398ins1

c.1188_1193dup6

1 paper

NM_001374828.1

p.G390_G395del6

c.1168_1184del18

1 paper

NM_001374828.1

p.G396_G397ins2

c.1188_1189ins6

1 paper

NM_001374828.1

p.G396_G397delins

c.1188_1191delinsA

1 paper

NM_001374828.1

p.G397G

c.1191C>A

1 paper

NM_001374828.1

p.G388R

c.1162G>C

3 papers

NM_001374828.1

p.P387_G400delFs

c.1160_1200del41

1 paper

NM_001374828.1

p.G399*

c.1195G>T