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

46 papers

NM_006015.6

p.R1721*

c.5161C>T

Surrounding Variants

1 paper

NM_006015.6

p.R1721fs

c.5161_5162fs

1 paper

NM_006015.6

p.R1721delFs

c.5162delG

3 papers

NM_006015.6

p.R1721fs

c.5161_5162fs

1 paper

NM_006015.6

p.F1720L

c.5160C>A

1 paper

NM_006015.6

p.F1720L

c.5160C>G

2 papers

NM_006015.6

p.R1721P

c.5162G>C

1 paper

NM_006015.6

p.R1722_I1725insFs

c.5164_5174dup11

53 papers

NM_006015.6

p.R1722*

c.5164C>T

1 paper

NM_006015.6

p.F1720L

c.5158T>C

1 paper

NM_006015.6

p.F1720fs

c.5158_5159fs

2 papers

NM_006015.6

p.R1722Q

c.5165G>A

1 paper

NM_006015.6

p.R1722P

c.5165G>C