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.Y1319F

c.3956A>T

Surrounding Variants

6 papers

NM_006015.6

p.Y1319*

c.3957T>A

1 paper

NM_006015.6

p.Y1319H

c.3955T>C

6 papers

NM_006015.6

p.Y1319*

c.3957T>G

1 paper

NM_006015.6

p.Y1319fs

c.3955_3956fs

2 papers

NM_006015.6

p.S1320A

c.3958T>G

1 paper

NM_006015.6

p.S1320Y

c.3959C>A

1 paper

NM_006015.6

p.P1321S

c.3961C>T

1 paper

NM_006015.6

p.G1317G

c.3951G>C

1 paper

NM_006015.6

p.G1317fs

c.3949_3950fs

1 paper

NM_006015.6

p.G1317fs

c.3949_3950fs

1 paper

NM_006015.6

p.S1322G

c.3964A>G

1 paper

NM_006015.6

p.G1317_S1320delFs

c.3949_3958del10