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

1 paper

NM_006015.6

p.A43A

c.129A>T

Surrounding Variants

1 paper

NM_006015.6

p.A43E

c.128C>A

2 papers

NM_006015.6

p.A44V

c.131C>T

1 paper

NM_006015.6

p.A43fs

c.127_128fs

1 paper

NM_006015.6

p.A42A

c.126G>A

1 paper

NM_006015.6

p.A42A

c.126G>C

1 paper

NM_006015.6

p.A42_A43insFs

c.126_127ins4

1 paper

NM_006015.6

p.A43del1

c.127_128delGCA

5 papers

NM_006015.6

p.A45del1

c.133_134delGCC

2 papers

NM_006015.6

p.A42V

c.125C>T

3 papers

NM_006015.6

p.A45fs

c.133_134fs

1 paper

NM_006015.6

p.A45delFs

c.134_135delCC

1 paper

NM_006015.6

p.A45D

c.134C>A