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.K25Q

c.73A>C

Surrounding Variants

2 papers

NM_006015.6

p.K25E

c.73A>G

1 paper

NM_006015.6

p.K25fs

c.73_74fs

1 paper

NM_006015.6

p.K25T

c.74A>C

1 paper

NM_006015.6

p.K25R

c.74A>G

1 paper

NM_006015.6

p.L24L

c.72G>C

1 paper

NM_006015.6

p.L24L

c.72G>T

1 paper

NM_006015.6

p.K25delFs

c.74delA

1 paper

NM_006015.6

p.K25N

c.75G>C

1 paper

NM_006015.6

p.K25_K26insFs

c.75_76insA

1 paper

NM_006015.6

p.K26delFs

c.76delA

1 paper

NM_006015.6

p.L24Q

c.71T>A

1 paper

NM_006015.6

p.K26Q

c.76A>C