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

7 papers

NM_006015.6

p.A2065T

c.6193G>A

Surrounding Variants

1 paper

NM_006015.6

p.A2065V

c.6194C>T

1 paper

NM_006015.6

p.L2064H

c.6191T>A

1 paper

NM_006015.6

p.L2064P

c.6191T>C

4 papers

NM_006015.6

p.N2066D

c.6196A>G

1 paper

NM_006015.6

p.N2066Y

c.6196A>T

2 papers

NM_006015.6

p.L2064fs

c.6190_6191fs

1 paper

NM_006015.6

p.L2064F

c.6190C>T

1 paper

NM_006015.6

p.L2064delFs

c.6191delT

1 paper

NM_006015.6

p.N2066S

c.6197A>G

1 paper

NM_139135.4

p.I1850insFs

c.5548dupA

1 paper

NM_006015.6

p.T2063R

c.6188C>G

1 paper

NM_006015.6

p.T2063fs

c.6187_6188fs