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

6 papers

NM_006015.6

p.Q1327ins2

c.3980_3981ins6

Surrounding Variants

2 papers

NM_006015.6

p.P1326Q

c.3977C>A

18 papers

NM_006015.6

p.Q1334ins1

c.4001_4002insGCA

2 papers

NM_006015.6

p.P1326R

c.3977C>G

5 papers

NM_006015.6

p.P1326L

c.3977C>T

1 paper

NM_006015.6

p.P1326delins

c.3977_3978delinsGC

37 papers

NM_006015.6

p.Q1333_Q1334del1

c.3999_4001delGCA

1 paper

NM_006015.6

p.Q1331_Q1334del0

c.3993_4001del9

1 paper

NM_006015.6

p.Q1327insFs

c.3980_3981ins4

17 papers

NM_006015.6

p.P1326fs

c.3976_3977fs

1 paper

NM_006015.6

p.P1326_Q1327delFs

c.3978_3979delGC

13 papers

NM_006015.6

p.P1326fs

c.3976_3977fs

2 papers

NM_006015.6

p.P1326_Q1327delFs

c.3977_3980del4