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.P120fs

c.358_359fs

Surrounding Variants

10 papers

NM_006015.6

p.P120S

c.358C>T

1 paper

NM_006015.6

p.P120R

c.359C>G

1 paper

NM_006015.6

p.P120L

c.359C>T

2 papers

NM_006015.6

p.E119D

c.357G>C

2 papers

NM_006015.6

p.E119D

c.357G>T

2 papers

NM_006015.6

p.E119A

c.356A>C

2 papers

NM_006015.6

p.P121fs

c.361_362fs

3 papers

NM_006015.6

p.P121S

c.361C>T

1 paper

NM_006015.6

p.E119Q

c.355G>C

2 papers

NM_006015.6

p.E119fs

c.355_356fs

3 papers

NM_006015.6

p.E119*

c.355G>T

1 paper

NM_006015.6

p.E119_G124delFs

c.356_372del17