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.K1938*

c.5812A>T

Surrounding Variants

4 papers

NM_006015.6

p.K1938E

c.5812A>G

1 paper

NM_006015.6

p.K1938R

c.5813A>G

1 paper

NM_006015.6

p.S1937N

c.5810G>A

1 paper

NM_006015.6

p.K1938N

c.5814G>C

1 paper

NM_006015.6

p.K1938N

c.5814G>T

1 paper

NM_006015.6

p.F1939delFs

c.5817delT

2 papers

NM_006015.6

p.S1936fs

c.5806_5807fs

1 paper

NM_006015.6

p.P1940S

c.5818C>T

1 paper

NM_006015.6

p.P1940fs

c.5818_5819fs

4 papers

NM_006015.6

p.P1940L

c.5819C>T

1 paper

NM_006015.6

p.E1935G

c.5804A>G

1 paper

NM_006015.6

p.E1935*

c.5803G>T