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.D2101delFs

c.6303delC

Surrounding Variants

2 papers

NM_006015.6

p.D2101A

c.6302A>C

1 paper

NM_006015.6

p.D2101delins

c.6302_6303delinsCA

1 paper

NM_006015.6

p.D2101fs

c.6301_6302fs

1 paper

NM_006015.6

p.P2102_F2103ins12

c.6304_6308ins36

1 paper

NM_006015.6

p.P2102A

c.6304C>G

1 paper

NM_006015.6

p.D2101insFs

c.6301_6302dupGA

2 papers

NM_006015.6

p.P2102H

c.6305C>A

1 paper

NM_006015.6

p.P2102L

c.6305C>T

6 papers

NM_006015.6

p.Q2100*

c.6298C>T

3 papers

NM_006015.6

p.F2103L

c.6307T>C

1 paper

NM_006015.6

p.A2099V

c.6296C>T

1 paper

NM_006015.6

p.F2103S

c.6308T>C