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

32 papers

NM_006015.6

p.Q1334del1

c.4000_4001delCAA

Surrounding Variants

1 paper

NM_006015.6

p.Q1334_R1335insQ

c.4000_4004ins3

4 papers

NM_006015.6

p.Q1334*

c.4000C>T

2 papers

NM_006015.6

p.Q1334insFs

c.4001_4002insG

1 paper

NM_006015.6

p.Q1334R

c.4001A>G

3 papers

NM_006015.6

p.Q1333*

c.3997C>T

1 paper

NM_006015.6

p.Q1333fs

c.3997_3998fs

3 papers

NM_006015.6

p.Q1333_Q1334del2

c.3997_4001del6

1 paper

NM_006015.6

p.Q1332insFs

c.3996dupG

44 papers

NM_006015.6

p.R1335*

c.4003C>T

5 papers

NM_006015.6

p.Q1332*

c.3994C>T

2 papers

NM_006015.6

p.R1335Q

c.4004G>A

3 papers

NM_006015.6

p.Q1331*

c.3991C>T