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.L1991_S1992delFs

c.5973_5974delGT

Surrounding Variants

1 paper

NM_006015.6

p.L1991M

c.5971C>A

1 paper

NM_006015.6

p.S1990N

c.5969G>A

1 paper

NM_006015.6

p.S1992delFs

c.5974delT

3 papers

NM_006015.6

p.S1992P

c.5974T>C

9 papers

NM_006015.6

p.S1992*

c.5975C>A

9 papers

NM_006015.6

p.S1992*

c.5975C>G

7 papers

NM_006015.6

p.S1992L

c.5975C>T

1 paper

NM_006015.6

p.F1993_G1996delFs

c.5977_5987del11

5 papers

NM_006015.6

p.R1989Q

c.5966G>A

1 paper

NM_006015.6

p.R1989P

c.5966G>C

1 paper

NM_006015.6

p.R1989L

c.5966G>T

1 paper

NM_006015.6

p.R1989G

c.5965C>G