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

2 papers

NM_006015.6

p.A259P

c.775G>C

Surrounding Variants

2 papers

NM_006015.6

p.A259T

c.775G>A

1 paper

NM_006015.6

p.A259S

c.775G>T

3 papers

NM_006015.6

p.S260_S261del1

c.780_782delCTC

1 paper

NM_006015.6

p.S260delFs

c.778_779delTC

1 paper

NM_006015.6

p.S258F

c.773C>T

2 papers

NM_006015.6

p.S258fs

c.772_773fs

1 paper

NM_006015.6

p.S260S

c.780C>A

2 papers

NM_006015.6

p.A257V

c.770C>T

3 papers

NM_006015.6

p.S261del1

c.781_782delTCG

1 paper

NM_006015.6

p.A257_S258insTA

c.769_773ins6

3 papers

NM_006015.6

p.S258_S260del3

c.772_779del9

1 paper

NM_006015.6

p.S261fs

c.781_782fs