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.D1838H

c.5512G>C

Surrounding Variants

1 paper

NM_006015.6

p.D1838fs

c.5512_5513fs

2 papers

NM_006015.6

p.D1838fs

c.5512_5513fs

1 paper

NM_006015.6

p.D1838_L1841delFs

c.5513_5523del11

1 paper

NM_006015.6

p.S1839G

c.5515A>G

1 paper

NM_006015.6

p.S1839C

c.5515A>T

1 paper

NM_006015.6

p.F1837fs

c.5509_5510fs

2 papers

NM_006015.6

p.F1837fs

c.5509_5510fs

1 paper

NM_006015.6

p.S1839N

c.5516G>A

1 paper

NM_006015.6

p.F1837insFs

c.5509_5510insT

2 papers

NM_006015.6

p.F1837delFs

c.5511delT

2 papers

NM_006015.6

p.G1840delFs

c.5518delG

2 papers

NM_006015.6

p.E1836fs

c.5506_5507fs