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.S1961fs

c.5881_5882fs

Surrounding Variants

1 paper

NM_006015.6

p.H1960Q

c.5880C>A

1 paper

NM_006015.6

p.H1960Q

c.5880C>G

1 paper

NM_006015.6

p.S1961_D1963delFs

c.5881_5887del7

2 papers

NM_006015.6

p.S1961N

c.5882G>A

1 paper

NM_006015.6

p.K1962R

c.5885A>G

1 paper

NM_006015.6

p.P1959fs

c.5875_5876fs

1 paper

NM_006015.6

p.P1959S

c.5875C>T

1 paper

NM_006015.6

p.D1963N

c.5887G>A

1 paper

NM_006015.6

p.D1963Y

c.5887G>T

2 papers

NM_006015.6

p.D1963G

c.5888A>G

1 paper

NM_006015.6

p.P1959delFs

c.5875delC

2 papers

NM_006015.6

p.P1959delFs

c.5876_5877delCC