Varaico: Literature-Extracted Genetic Variants

ARID1A

2,994 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure aroun...

Pfam Domains

ARIDaa 1019–1104UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 1976–2231UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1A

HGNC Previous Symbols

C1orf4; SMARCF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

54 papers

NM_006015.6

p.D1850fs

c.5548_5549fs

Surrounding Variants

52 papers

NM_006015.6

p.D1850fs

c.5548_5549fs

NM_139135.4

p.D1633fs

c.4897_4898fs

4 papers

NM_006015.6

p.D1850G

c.5549A>G

1 paper

NM_006015.6

p.T1851_Q1856del0

c.5551_5568del18

1 paper

NM_006015.6

p.G1849E

c.5546G>A

1 paper

NM_006015.6

p.T1851delFs

c.5553delC

1 paper

NM_006015.6

p.T1851I

c.5552C>T

1 paper

NM_006015.6

p.T1851_T1852insFs

c.5553_5554insG

1 paper

NM_006015.6

p.G1848V

c.5543G>T

1 paper

NM_006015.6

p.T1852insFs

c.5554_5555ins5

2 papers

NM_006015.6

p.T1852fs

c.5554_5555fs

7 papers

NM_006015.6

p.G1848fs

c.5542_5543fs

3 papers

NM_006015.6

p.G1848W

c.5542G>T