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.H167del1

c.499_501delCAC

Surrounding Variants

1 paper

NM_001374828.1

p.Q166delins

c.497_498delinsTC

1 paper

NM_001374828.1

p.Q165_A173delFs

c.495_517del23

1 paper

NM_001374828.1

p.H168P

c.503A>C

1 paper

NM_001374828.1

p.Q165*

c.493C>T

1 paper

NM_001374828.1

p.H168Q

c.504C>A

1 paper

NM_001374828.1

p.Q166del1

c.496_497delCAG

3 papers

NM_001374828.1

p.H164L

c.491A>T

1 paper

NM_001374828.1

p.H169delins

c.505_507delinsAAT

1 paper

NM_001374828.1

p.H170_A173del4

c.508_518del12

1 paper

NM_001374828.1

p.H172_H174del3

c.514_521del9

1 paper

NM_001374828.1

p.H170_H171delins

c.510_511delinsTT

1 paper

NM_001374828.1

p.P163delFs

c.487delC