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.Q31insFs

c.92_93insT

Surrounding Variants

1 paper

NM_006015.6

p.Q31R

c.92A>G

1 paper

NM_006015.6

p.Q31L

c.92A>T

1 paper

NM_006015.6

p.E33_G36delFs

c.98_107del10

1 paper

NM_006015.6

p.Q31_R47delFs

c.93_139del47

1 paper

NM_006015.6

p.Q31_R32ins7

c.91_95ins21

4 papers

NM_006015.6

p.Q31*

c.91C>T

1 paper

NM_006015.6

p.Q31delFs

c.92delA

1 paper

NM_006015.6

p.Q31H

c.93G>T

1 paper

NM_006015.6

p.R32_E33delFs

c.95_99del5

1 paper

NM_006015.6

p.Q30Q

c.90G>A

1 paper

NM_006015.6

p.Q31insFs

c.91_92insC

1 paper

NM_006015.6

p.R32Q

c.95G>A