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.G1740*

c.5218G>T

Surrounding Variants

1 paper

NM_006015.6

p.G1740E

c.5219G>A

1 paper

NM_006015.6

p.P1739R

c.5216C>G

3 papers

NM_006015.6

p.Q1741*

c.5221C>T

1 paper

NM_006015.6

p.R1742delFs

c.5225_5226delGA

1 paper

NM_006015.6

p.Q1741fs

c.5221_5222fs

1 paper

NM_006015.6

p.P1739fs

c.5215_5216fs

1 paper

NM_006015.6

p.P1739delFs

c.5216delC

1 paper

NM_006015.6

p.R1742fs

c.5224_5225fs

2 papers

NM_006015.6

p.R1742G

c.5224A>G

1 paper

NM_006015.6

p.R1742fs

c.5224_5225fs

1 paper

NM_006015.6

p.R1742K

c.5225G>A

1 paper

NM_006015.6

p.R1742T

c.5225G>C