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

7 papers

NM_006015.6

p.P1898fs

c.5692_5693fs

Surrounding Variants

5 papers

NM_006015.6

p.P1898fs

c.5692_5693fs

1 paper

NM_006015.6

p.P1898L

c.5693C>T

1 paper

NM_006015.6

p.P1898_P1899insFs

c.5694_5695insC

1 paper

NM_006015.6

p.P1897L

c.5690C>T

2 papers

NM_006015.6

p.P1897fs

c.5689_5690fs

1 paper

NM_006015.6

p.P1897A

c.5689C>G

1 paper

NM_006015.6

p.P1897fs

c.5689_5690fs

2 papers

NM_006015.6

p.P1899fs

c.5695_5696fs

1 paper

NM_006015.6

p.P1898insFs

c.5693dupC

10 papers

NM_006015.6

p.P1897delFs

c.5689delC

1 paper

NM_006015.6

p.P1898delFs

c.5692_5693delCC

3 papers

NM_006015.6

p.G1896A

c.5687G>C