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.A2240insFs

c.6719dupC

Surrounding Variants

4 papers

NM_006015.6

p.A2240fs

c.6718_6719fs

1 paper

NM_006015.6

p.A2240fs

c.6718_6719fs

1 paper

NM_006015.6

p.A2240insFs

c.6718dupG

1 paper

NM_006015.6

p.A2240delFs

c.6718delG

4 papers

NM_006015.6

p.L2239P

c.6716T>C

1 paper

NM_006015.6

p.L2239fs

c.6715_6716fs

1 paper

NM_006015.6

p.L2241_D2245delFs

c.6723_6733del11

1 paper

NM_006015.6

p.L2238fs

c.6712_6713fs

1 paper

NM_006015.6

p.L2238fs

c.6712_6713fs

1 paper

NM_006015.6

p.A2242D

c.6725C>A

1 paper

NM_006015.6

p.A2237insFs

c.6710_6711insT

3 papers

NM_006015.6

p.A2237V

c.6710C>T