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.L1970P

c.5909T>C

Surrounding Variants

1 paper

NM_006015.6

p.L1970F

c.5908C>T

1 paper

NM_006015.6

p.L1970fs

c.5908_5909fs

1 paper

NM_006015.6

p.L1970_L1971insFs

c.5910_5911ins5

1 paper

NM_006015.6

p.L1971_D1972ins5

c.5911_5915ins15

1 paper

NM_006015.6

p.L1970_L1971del2

c.5908_5912del6

1 paper

NM_006015.6

p.T1969N

c.5906C>A

1 paper

NM_006015.6

p.L1971R

c.5912T>G

1 paper

NM_006015.6

p.L1971insFs

c.5912_5913insG

2 papers

NM_006015.6

p.T1969fs

c.5905_5906fs

1 paper

NM_006015.6

p.D1972N

c.5914G>A

1 paper

NM_006015.6

p.D1972fs

c.5914_5915fs

1 paper

NM_006015.6

p.C1968*

c.5904T>A