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

2 papers

NM_006015.6

p.Q2212H

c.6636G>T

Surrounding Variants

2 papers

NM_006015.6

p.Q2212H

c.6636G>C

4 papers

NM_006015.6

p.Q2212*

c.6634C>T

1 paper

NM_006015.6

p.A2213A

c.6639C>T

1 paper

NM_006015.6

p.S2214C

c.6640A>T

1 paper

NM_006015.6

p.S2211G

c.6631A>G

1 paper

NM_006015.6

p.S2214T

c.6641G>C

1 paper

NM_006015.6

p.Q2210H

c.6630G>C

1 paper

NM_006015.6

p.Q2210H

c.6630G>T

1 paper

NM_006015.6

p.Q2210R

c.6629A>G

2 papers

NM_006015.6

p.L2215fs

c.6643_6644fs

1 paper

NM_006015.6

p.L2216_P2222del7

c.6646_6665del21

1 paper

NM_006015.6

p.L2216_H2217delFs

c.6647_6651del5