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.M274fs

c.820_821fs

Surrounding Variants

7 papers

NM_006015.6

p.M274fs

c.820_821fs

1 paper

NM_006015.6

p.M274V

c.820A>G

1 paper

NM_006015.6

p.M274delFs

c.821delT

1 paper

NM_006015.6

p.A273_M274insFs

c.819_820insG

1 paper

NM_006015.6

p.A273A

c.819C>G

1 paper

NM_006015.6

p.A273A

c.819C>T

1 paper

NM_006015.6

p.M274_G276del3

c.820_827del9

1 paper

NM_006015.6

p.G276insFs

c.827dupG

13 papers

NM_006015.6

p.G276delFs

c.827delG

1 paper

NM_006015.6

p.A273V

c.818C>T

4 papers

NM_006015.6

p.M274I

c.822G>A

4 papers

NM_006015.6

p.M274I

c.822G>C