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.A2fs

c.4_5fs

Surrounding Variants

2 papers

NM_006015.6

p.A2T

c.4G>A

2 papers

NM_006015.6

p.A2S

c.4G>T

1 paper

NM_006015.6

p.A2V

c.5C>T

1 paper

NM_006015.6

p.A3delFs

c.7_8delGC

3 papers

NM_006015.6

p.M1I

c.3G>A

1 paper

NM_006015.6

p.M1I

c.3G>C

1 paper

NM_006015.6

p.M1_A2insFs

c.3_4insA

1 paper

NM_006015.6

p.M1_A2insFs

c.3_4insTT

3 papers

NM_006015.6

p.M1I

c.3G>T

1 paper

NM_006015.6

p.A2A

c.6C>A

1 paper

NM_006015.6

p.A3insFs

c.7dupG

1 paper

NM_006015.6

p.A3_V5insFs

c.7_14dup8