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.A2242D

c.6725C>A

Surrounding Variants

1 paper

NM_006015.6

p.K2243_V2244insCTA

c.6727_6731ins9

1 paper

NM_006015.6

p.K2243R

c.6728A>G

1 paper

NM_006015.6

p.L2241_D2245delFs

c.6723_6733del11

1 paper

NM_006015.6

p.K2243N

c.6729G>C

1 paper

NM_006015.6

p.K2243N

c.6729G>T

1 paper

NM_006015.6

p.V2244L

c.6730G>C

3 papers

NM_006015.6

p.V2244L

c.6730G>T

2 papers

NM_006015.6

p.V2244G

c.6731T>G

1 paper

NM_006015.6

p.A2240insFs

c.6719dupC

4 papers

NM_006015.6

p.A2240fs

c.6718_6719fs

1 paper

NM_006015.6

p.A2240fs

c.6718_6719fs

2 papers

NM_006015.6

p.D2245N

c.6733G>A