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.K1795N

c.5385G>C

Surrounding Variants

2 papers

NM_006015.6

p.K1795N

c.5385G>T

2 papers

NM_006015.6

p.K1795R

c.5384A>G

1 paper

NM_006015.6

p.K1795_P1796ins4

c.5383_5387ins12

1 paper

NM_006015.6

p.P1796_S1801delFs

c.5386_5402del17

1 paper

NM_006015.6

p.D1794E

c.5382C>A

1 paper

NM_006015.6

p.D1794E

c.5382C>G

2 papers

NM_006015.6

p.D1794_K1795insFs

c.5382_5383insC

1 paper

NM_006015.6

p.A1797S

c.5389G>T

1 paper

NM_006015.6

p.A1797D

c.5390C>A

1 paper

NM_006015.6

p.D1794fs

c.5380_5381fs

1 paper

NM_006015.6

p.S1798fs

c.5392_5393fs

1 paper

NM_006015.6

p.K1793fs

c.5377_5378fs