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

2 papers

NM_006015.6

p.L2016fs

c.6046_6047fs

Surrounding Variants

1 paper

NM_006015.6

p.L2016delFs

c.6047delT

1 paper

NM_006015.6

p.L2016fs

c.6046_6047fs

1 paper

NM_006015.6

p.I2015S

c.6044T>G

1 paper

NM_006015.6

p.L2016delFs

c.6046delC

1 paper

NM_006015.6

p.I2015_H2021delFs

c.6045_6063del19

1 paper

NM_006015.6

p.I2015F

c.6043A>T

1 paper

NM_006015.6

p.L2017P

c.6050T>C

2 papers

NM_006015.6

p.L2014P

c.6041T>C

1 paper

NM_006015.6

p.H2018Y

c.6052C>T

2 papers

NM_006015.6

p.H2018R

c.6053A>G

1 paper

NM_006015.6

p.K2013K

c.6039G>A

1 paper

NM_006015.6

p.K2013R

c.6038A>G