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.P1822insFs

c.5465_5466insC

Surrounding Variants

1 paper

NM_006015.6

p.P1822insFs

c.5465_5466insT

1 paper

NM_006015.6

p.D1821H

c.5461G>C

1 paper

NM_006015.6

p.F1823L

c.5467T>C

1 paper

NM_006015.6

p.F1823fs

c.5467_5468fs

2 papers

NM_006015.6

p.N1820fs

c.5458_5459fs

1 paper

NM_006015.6

p.F1823L

c.5469T>A

1 paper

NM_006015.6

p.F1823L

c.5469T>G

2 papers

NM_006015.6

p.K1819R

c.5456A>G

1 paper

NM_006015.6

p.V1825_L1831del7

c.5473_5492del21

1 paper

NM_006015.6

p.Q1818delFs

c.5454delG

1 paper

NM_006015.6

p.V1825L

c.5473G>C

1 paper

NM_006015.6

p.V1825L

c.5473G>T