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

6 papers

NM_006015.6

p.E2034*

c.6100G>T

Surrounding Variants

1 paper

NM_006015.6

p.K2033*

c.6097A>T

1 paper

NM_006015.6

p.E2035_E2036del1

c.6105_6107delGGA

1 paper

NM_006015.6

p.E2035K

c.6103G>A

2 papers

NM_006015.6

p.E2035*

c.6103G>T

1 paper

NM_006015.6

p.E2035_E2036insFs

c.6105_6106dupGG

1 paper

NM_006015.6

p.E2035D

c.6105G>C

1 paper

NM_006015.6

p.E2035D

c.6105G>T

2 papers

NM_006015.6

p.E2036del1

c.6106_6107delGAA

1 paper

NM_006015.6

p.E2032K

c.6094G>A

1 paper

NM_006015.6

p.E2032insFs

c.6095_6096insA

1 paper

NM_006015.6

p.E2032fs

c.6094_6095fs

1 paper

NM_006015.6

p.E2036fs

c.6106_6107fs