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.S2149insFs

c.6446_6447insA

Surrounding Variants

1 paper

NM_006015.6

p.S2149fs

c.6445_6446fs

1 paper

NM_006015.6

p.Y2148*

c.6444T>A

1 paper

NM_006015.6

p.Y2148*

c.6444T>G

2 papers

NM_006015.6

p.Y2148fs

c.6442_6443fs

1 paper

NM_006015.6

p.M2151delFs

c.6451delA

2 papers

NM_006015.6

p.M2151fs

c.6451_6452fs

1 paper

NM_006015.6

p.L2147S

c.6440T>C

1 paper

NM_006015.6

p.L2147fs

c.6439_6440fs

1 paper

NM_006015.6

p.K2146R

c.6437A>G

1 paper

NM_006015.6

p.K2146M

c.6437A>T

1 paper

NM_006015.6

p.L2147del1

c.6439_6440delTTG

2 papers

NM_006015.6

p.V2152A

c.6455T>C