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.Q1327H

c.3981G>T

Surrounding Variants

1 paper

NM_006015.6

p.Q1327H

c.3981G>C

1 paper

NM_006015.6

p.Q1327insFs

c.3980_3981insC

2 papers

NM_006015.6

p.Q1328*

c.3982C>T

9 papers

NM_006015.6

p.Q1327fs

c.3979_3980fs

5 papers

NM_006015.6

p.Q1327*

c.3979C>T

10 papers

NM_006015.6

p.Q1327fs

c.3979_3980fs

1 paper

NM_006015.6

p.Q1328H

c.3984G>C

1 paper

NM_006015.6

p.P1326_Q1327insFs

c.3978_3979insAC

1 paper

NM_006015.6

p.Q1327insFs

c.3979_3980insC

1 paper

NM_006015.6

p.Q1328H

c.3984G>T

2 papers

NM_006015.6

p.P1326Q

c.3977C>A

18 papers

NM_006015.6

p.Q1334ins1

c.4001_4002insGCA