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.A182P

c.544G>C

Surrounding Variants

2 papers

NM_006015.6

p.A182T

c.544G>A

1 paper

NM_006015.6

p.A182G

c.545C>G

2 papers

NM_006015.6

p.A182A

c.546A>C

1 paper

NM_006015.6

p.L181fs

c.541_542fs

1 paper

NM_006015.6

p.L181L

c.541C>T

1 paper

NM_006015.6

p.L181fs

c.541_542fs

4 papers

NM_006015.6

p.A183T

c.547G>A

1 paper

NM_006015.6

p.A183S

c.547G>T

1 paper

NM_006015.6

p.G180G

c.540C>T

1 paper

NM_006015.6

p.A183V

c.548C>T

1 paper

NM_006015.6

p.L181_A183delFs

c.542_548del7

1 paper

NM_006015.6

p.G180D

c.539G>A