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.E1864fs

c.5590_5591fs

Surrounding Variants

2 papers

NM_006015.6

p.E1864fs

c.5590_5591fs

1 paper

NM_006015.6

p.E1864*

c.5590G>T

1 paper

NM_006015.6

p.E1864delFs

c.5590delG

1 paper

NM_006015.6

p.T1863I

c.5588C>T

1 paper

NM_006015.6

p.T1863_E1864delFs

c.5589_5590delAG

1 paper

NM_006015.6

p.L1865_H1871delFs

c.5593_5611del19

1 paper

NM_006015.6

p.T1863fs

c.5587_5588fs

1 paper

NM_006015.6

p.L1865fs

c.5593_5594fs

1 paper

NM_006015.6

p.L1865fs

c.5593_5594fs

1 paper

NM_006015.6

p.L1865insFs

c.5595dupG

1 paper

NM_006015.6

p.K1862R

c.5585A>G

3 papers

NM_006015.6

p.L1866fs

c.5596_5597fs