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

3 papers

NM_006015.6

p.R1289Splc

c.3866+1G>A

Surrounding Variants

2 papers

NM_006015.6

p.R1289Splc

c.3866+1G>C

1 paper

NM_006015.6

p.R1289Splc

c.3866+1G>T

1 paper

NM_006015.6

p.R1289_T1290insC

c.3865_3869ins3

1 paper

NM_006015.6

p.R1289W

c.3865A>T

1 paper

NM_006015.6

p.R1289Splc

c.3866+3A>T

2 papers

NM_006015.6

p.R1287T

c.3860G>C

1 paper

NM_006015.6

p.R1287fs

c.3859_3860fs

1 paper

NM_006015.6

p.R1287insFs

c.3859dupA

1 paper

NM_006015.6

p.R1287_V1288delFs

c.3861_3862delAG

1 paper

NM_006015.6

p.D1286fs

c.3856_3857fs

1 paper

NM_006015.6

p.D1286fs

c.3856_3857fs

5 papers

NM_006015.6

p.Y1285*

c.3855T>A