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

3 papers

NM_006015.6

p.F2103L

c.6307T>C

Surrounding Variants

1 paper

NM_006015.6

p.F2103S

c.6308T>C

2 papers

NM_006015.6

p.P2102H

c.6305C>A

1 paper

NM_006015.6

p.P2102L

c.6305C>T

3 papers

NM_006015.6

p.F2103L

c.6309T>A

3 papers

NM_006015.6

p.F2103L

c.6309T>G

1 paper

NM_006015.6

p.P2102_F2103ins12

c.6304_6308ins36

1 paper

NM_006015.6

p.P2102A

c.6304C>G

2 papers

NM_006015.6

p.S2104fs

c.6310_6311fs

1 paper

NM_006015.6

p.S2104Y

c.6311C>A

1 paper

NM_006015.6

p.S2104F

c.6311C>T

2 papers

NM_006015.6

p.D2101A

c.6302A>C

1 paper

NM_006015.6

p.D2101delFs

c.6303delC