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.L2136_F2141delFs

c.6407_6423del17

Surrounding Variants

2 papers

NM_006015.6

p.I2135N

c.6404T>A

1 paper

NM_006015.6

p.I2135S

c.6404T>G

1 paper

NM_006015.6

p.L2134fs

c.6400_6401fs

1 paper

NM_006015.6

p.L2134V

c.6400C>G

3 papers

NM_006015.6

p.I2135_L2136del0

c.6403_6408del6

1 paper

NM_006015.6

p.D2133A

c.6398A>C

1 paper

NM_006015.6

p.D2133G

c.6398A>G

1 paper

NM_006015.6

p.D2133V

c.6398A>T

1 paper

NM_006015.6

p.A2137insFs

c.6411dupC

1 paper

NM_006015.6

p.D2133fs

c.6397_6398fs

1 paper

NM_006015.6

p.A2137delFs

c.6411delC

2 papers

NM_006015.6

p.A2137D

c.6410C>A