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.C1723C

c.5169C>T

Surrounding Variants

1 paper

NM_006015.6

p.L1724R

c.5171T>G

1 paper

NM_006015.6

p.L1724L

c.5172G>A

1 paper

NM_006015.6

p.I1725delFs

c.5173delA

2 papers

NM_006015.6

p.R1722Q

c.5165G>A

1 paper

NM_006015.6

p.R1722P

c.5165G>C

1 paper

NM_006015.6

p.R1722L

c.5165G>T

53 papers

NM_006015.6

p.R1722*

c.5164C>T

1 paper

NM_006015.6

p.R1722_I1725insFs

c.5164_5174dup11

2 papers

NM_006015.6

p.R1721P

c.5162G>C

2 papers

NM_006015.6

p.E1726Q

c.5176G>C

9 papers

NM_006015.6

p.E1726*

c.5176G>T

1 paper

NM_006015.6

p.E1726delFs

c.5177delA