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.W2050_D2051delFs

c.6150_6151delGG

Surrounding Variants

2 papers

NM_006015.6

p.W2050G

c.6148T>G

1 paper

NM_006015.6

p.W2050fs

c.6148_6149fs

9 papers

NM_006015.6

p.W2050*

c.6149G>A

5 papers

NM_006015.6

p.W2049*

c.6147G>A

8 papers

NM_006015.6

p.W2050*

c.6150G>A

5 papers

NM_006015.6

p.W2049*

c.6146G>A

1 paper

NM_006015.6

p.W2050C

c.6150G>C

1 paper

NM_006015.6

p.W2050C

c.6150G>T

1 paper

NM_006015.6

p.D2051fs

c.6151_6152fs

1 paper

NM_006015.6

p.W2049fs

c.6145_6146fs

2 papers

NM_006015.6

p.W2048*

c.6144G>A

1 paper

NM_006015.6

p.W2048*

c.6143G>A