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.P1867fs

c.5599_5600fs

Surrounding Variants

1 paper

NM_006015.6

p.P1867_S1868insAG

c.5599_5603ins6

1 paper

NM_006015.6

p.L1866P

c.5597T>C

1 paper

NM_006015.6

p.L1866delFs

c.5598delG

3 papers

NM_006015.6

p.L1866fs

c.5596_5597fs

1 paper

NM_006015.6

p.L1866insFs

c.5597dupT

2 papers

NM_006015.6

p.S1868fs

c.5602_5603fs

1 paper

NM_006015.6

p.S1868delFs

c.5603delC

1 paper

NM_006015.6

p.S1868F

c.5603C>T

1 paper

NM_006015.6

p.S1868_R1869delins

c.5604_5605delinsTG

1 paper

NM_006015.6

p.L1865insFs

c.5595dupG

1 paper

NM_006015.6

p.L1865fs

c.5593_5594fs

1 paper

NM_006015.6

p.R1869G

c.5605C>G