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.K1830T

c.5489A>C

Surrounding Variants

1 paper

NM_006015.6

p.K1830*

c.5488A>T

9 papers

NM_006015.6

p.L1831V

c.5491C>G

1 paper

NM_006015.6

p.L1831H

c.5492T>A

1 paper

NM_006015.6

p.L1831P

c.5492T>C

1 paper

NM_006015.6

p.L1831R

c.5492T>G

2 papers

NM_006015.6

p.D1829H

c.5485G>C

1 paper

NM_006015.6

p.D1829_K1830delFs

c.5487_5488delTA

2 papers

NM_006015.6

p.D1829fs

c.5485_5486fs

1 paper

NM_006015.6

p.S1828_D1829delins

c.5484_5485delinsTC

1 paper

NM_006015.6

p.R1833_G1840delFs

c.5498_5520del23

7 papers

NM_006015.6

p.S1828*

c.5483C>A

7 papers

NM_006015.6

p.S1828*

c.5483C>G