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

4 papers

NM_006015.6

p.E2000Q

c.5998G>C

Surrounding Variants

3 papers

NM_006015.6

p.E2000*

c.5998G>T

1 paper

NM_006015.6

p.E2000D

c.6000G>C

1 paper

NM_006015.6

p.E2000D

c.6000G>T

1 paper

NM_006015.6

p.F1999fs

c.5995_5996fs

1 paper

NM_006015.6

p.F1999insFs

c.5995_5996ins4

1 paper

NM_006015.6

p.F1999fs

c.5995_5996fs

3 papers

NM_006015.6

p.F1999insFs

c.5997dupT

1 paper

NM_006015.6

p.F1999delFs

c.5997delT

2 papers

NM_006015.6

p.F1999delFs

c.5996_5997delTT

1 paper

NM_006015.6

p.M2001insFs

c.6002_6003insCA

1 paper

NM_006015.6

p.D1998H

c.5992G>C

1 paper

NM_006015.6

p.D1998fs

c.5992_5993fs