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.E1964*

c.5890G>T

Surrounding Variants

2 papers

NM_006015.6

p.E1964K

c.5890G>A

1 paper

NM_006015.6

p.E1964Q

c.5890G>C

1 paper

NM_006015.6

p.E1964G

c.5891A>G

1 paper

NM_006015.6

p.D1963E

c.5889T>A

1 paper

NM_006015.6

p.D1963E

c.5889T>G

2 papers

NM_006015.6

p.D1963G

c.5888A>G

1 paper

NM_006015.6

p.E1964D

c.5892G>C

1 paper

NM_006015.6

p.E1964D

c.5892G>T

1 paper

NM_006015.6

p.T1965insFs

c.5893_5894insC

1 paper

NM_006015.6

p.T1965P

c.5893A>C

1 paper

NM_006015.6

p.D1963N

c.5887G>A

1 paper

NM_006015.6

p.D1963Y

c.5887G>T