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.R1918fs

c.5752_5753fs

Surrounding Variants

2 papers

NM_006015.6

p.R1918W

c.5752C>T

1 paper

NM_006015.6

p.R1918Q

c.5753G>A

1 paper

NM_006015.6

p.R1918P

c.5753G>C

1 paper

NM_006015.6

p.T1917S

c.5750C>G

2 papers

NM_006015.6

p.T1917A

c.5749A>G

1 paper

NM_006015.6

p.T1917S

c.5749A>T

1 paper

NM_006015.6

p.T1917fs

c.5749_5750fs

1 paper

NM_006015.6

p.S1919Y

c.5756C>A

2 papers

NM_006015.6

p.S1916C

c.5747C>G

1 paper

NM_006015.6

p.S1920fs

c.5758_5759fs

1 paper

NM_006015.6

p.S1920delFs

c.5759_5760delGC

1 paper

NM_006015.6

p.S1920N

c.5759G>A