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

17 papers

NM_006015.6

p.F2141fs

c.6421_6422fs

NM_139135.4

p.F1924fs

c.5770_5771fs

Surrounding Variants

1 paper

NM_006015.6

p.F2141L

c.6421T>C

18 papers

NM_006015.6

p.F2141fs

c.6421_6422fs

1 paper

NM_006015.6

p.F2141L

c.6423C>A

1 paper

NM_006015.6

p.F2141L

c.6423C>G

1 paper

NM_006015.6

p.P2140L

c.6419C>T

2 papers

NM_006015.6

p.S2142R

c.6424A>C

1 paper

NM_006015.6

p.S2142C

c.6424A>T

1 paper

NM_006015.6

p.P2140T

c.6418C>A

1 paper

NM_006015.6

p.P2140fs

c.6418_6419fs

1 paper

NM_006015.6

p.S2142N

c.6425G>A

1 paper

NM_006015.6

p.S2142T

c.6425G>C

1 paper

NM_006015.6

p.S2142I

c.6425G>T