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.E33_A35Fs

c.98_104delinsTCCFs

Surrounding Variants

1 paper

NM_006015.6

p.E33A

c.98A>C

1 paper

NM_006015.6

p.E33G

c.98A>G

3 papers

NM_006015.6

p.E33K

c.97G>A

2 papers

NM_006015.6

p.E33fs

c.97_98fs

3 papers

NM_006015.6

p.E33fs

c.97_98fs

2 papers

NM_006015.6

p.E34K

c.100G>A

1 paper

NM_006015.6

p.E34G

c.101A>G

2 papers

NM_006015.6

p.E34V

c.101A>T

1 paper

NM_006015.6

p.A35_G36del2

c.103_107del6

1 paper

NM_006015.6

p.R32Q

c.95G>A

1 paper

NM_006015.6

p.R32_E33delFs

c.95_99del5

1 paper

NM_006015.6

p.E34D

c.102G>T