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

2 papers

NM_006015.6

p.L2088_L2089del1

c.6264_6266delCCT

Surrounding Variants

13 papers

NM_006015.6

p.G2087E

c.6260G>A

4 papers

NM_006015.6

p.G2087V

c.6260G>T

51 papers

NM_006015.6

p.G2087R

c.6259G>A

50 papers

NM_006015.6

p.G2087R

c.6259G>C

5 papers

NM_006015.6

p.G2087*

c.6259G>T

1 paper

NM_006015.6

p.G2087delins

c.6259_6260delinsTT

1 paper

NM_006015.6

p.L2089delFs

c.6265delC

1 paper

NM_006015.6

p.L2089del1

c.6265_6266delCTA

1 paper

NM_006015.6

p.L2089I

c.6265C>A

2 papers

NM_006015.6

p.L2089fs

c.6265_6266fs

1 paper

NM_006015.6

p.L2089P

c.6266T>C

1 paper

NM_006015.6

p.L2085_L2088delins

c.6255_6264delinsA