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.S2068_L2073del0

c.6202_6219del18

Surrounding Variants

1 paper

NM_006015.6

p.I2067T

c.6200T>C

2 papers

NM_006015.6

p.I2067S

c.6200T>G

2 papers

NM_006015.6

p.S2068*

c.6203C>A

1 paper

NM_006015.6

p.S2068W

c.6203C>G

1 paper

NM_006015.6

p.S2068L

c.6203C>T

1 paper

NM_006015.6

p.G2069delFs

c.6207delG

1 paper

NM_139135.4

p.I1850insFs

c.5548dupA

1 paper

NM_006015.6

p.N2066S

c.6197A>G

2 papers

NM_006015.6

p.G2069fs

c.6205_6206fs

4 papers

NM_006015.6

p.N2066D

c.6196A>G

1 paper

NM_006015.6

p.N2066Y

c.6196A>T

1 paper

NM_006015.6

p.Q2070fs

c.6208_6209fs