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.C2081F

c.6242G>T

Surrounding Variants

1 paper

NM_006015.6

p.C2081Y

c.6242G>A

1 paper

NM_006015.6

p.C2081*

c.6243C>A

1 paper

NM_006015.6

p.L2082fs

c.6244_6245fs

1 paper

NM_006015.6

p.I2080M

c.6240T>G

1 paper

NM_006015.6

p.P2083_V2084delFs

c.6247_6250del4

1 paper

NM_006015.6

p.L2082insFs

c.6246dupG

1 paper

NM_006015.6

p.P2083fs

c.6247_6248fs

1 paper

NM_006015.6

p.P2083L

c.6248C>T

3 papers

NM_006015.6

p.S2079I

c.6236G>T

1 paper

NM_006015.6

p.E2078D

c.6234G>C

1 paper

NM_006015.6

p.E2078D

c.6234G>T

3 papers

NM_006015.6

p.V2084D

c.6251T>A