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.D2201insFs

c.6601dupG

Surrounding Variants

1 paper

NM_006015.6

p.E2200*

c.6598G>T

1 paper

NM_006015.6

p.D2201fs

c.6601_6602fs

1 paper

NM_006015.6

p.S2202_L2203delFs

c.6604_6608del5

1 paper

NM_006015.6

p.S2202G

c.6604A>G

1 paper

NM_006015.6

p.S2202I

c.6605G>T

2 papers

NM_006015.6

p.F2198S

c.6593T>C

1 paper

NM_006015.6

p.F2198delFs

c.6594delC

1 paper

NM_006015.6

p.G2197V

c.6590G>T

1 paper

NM_006015.6

p.A2204_Q2207delFs

c.6611_6621del11

1 paper

NM_006015.6

p.A2204fs

c.6610_6611fs

2 papers

NM_006015.6

p.A2204S

c.6610G>T

1 paper

NM_006015.6

p.A2204fs

c.6610_6611fs