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.L2180_G2193del14

c.6538_6578del42

Surrounding Variants

4 papers

NM_006015.6

p.S2179fs

c.6535_6536fs

1 paper

NM_006015.6

p.S2179fs

c.6535_6536fs

2 papers

NM_006015.6

p.S2179N

c.6536G>A

1 paper

NM_006015.6

p.S2179delFs

c.6537delC

1 paper

NM_006015.6

p.D2178G

c.6533A>G

1 paper

NM_006015.6

p.L2180fs

c.6538_6539fs

1 paper

NM_006015.6

p.L2180insFs

c.6539dupT

1 paper

NM_006015.6

p.L2180_A2182delFs

c.6539_6546del8

4 papers

NM_006015.6

p.D2178fs

c.6532_6533fs

1 paper

NM_006015.6

p.D2178delFs

c.6533delA

7 papers

NM_006015.6

p.D2178fs

c.6532_6533fs

2 papers

NM_006015.6

p.A2181fs

c.6541_6542fs