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

71 papers

NM_006015.6

p.R1276*

c.3826C>T

Surrounding Variants

3 papers

NM_006015.6

p.R1276Q

c.3827G>A

1 paper

NM_006015.6

p.R1276delFs

c.3828delA

6 papers

NM_006015.6

p.Q1277*

c.3829C>T

1 paper

NM_006015.6

p.P1275S

c.3823C>T

2 papers

NM_006015.6

p.Q1277fs

c.3829_3830fs

1 paper

NM_006015.6

p.Q1277_R1289delFs

c.3830_3866del37

1 paper

NM_006015.6

p.Q1277P

c.3830A>C

1 paper

NM_006015.6

p.Q1277H

c.3831G>C

1 paper

NM_006015.6

p.Q1277H

c.3831G>T

1 paper

NM_006015.6

p.H1278Y

c.3832C>T

1 paper

NM_006015.6

p.G1274R

c.3820G>A

1 paper

NM_006015.6

p.G1274insFs

c.3820_3821ins8