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.P194del1

c.580_582delCCC

Surrounding Variants

1 paper

NM_006015.6

p.E193D

c.579G>C

1 paper

NM_006015.6

p.E193D

c.579G>T

4 papers

NM_006015.6

p.P194L

c.581C>T

1 paper

NM_006015.6

p.Y195delFs

c.583delT

1 paper

NM_006015.6

p.L192Q

c.575T>A

1 paper

NM_006015.6

p.Y195fs

c.583_584fs

2 papers

NM_006015.6

p.L192fs

c.574_575fs

1 paper

NM_006015.6

p.L192_E193insG

c.574_578ins3

1 paper

NM_006015.6

p.L192L

c.574C>T

1 paper

NM_006015.6

p.L192fs

c.574_575fs

3 papers

NM_006015.6

p.Y195*

c.585C>A

3 papers

NM_006015.6

p.Y195*

c.585C>G