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.R2116*

c.6346A>T

Surrounding Variants

2 papers

NM_006015.6

p.R2116fs

c.6346_6347fs

2 papers

NM_006015.6

p.R2116fs

c.6346_6347fs

1 paper

NM_006015.6

p.R2116K

c.6347G>A

1 paper

NM_006015.6

p.R2116T

c.6347G>C

1 paper

NM_006015.6

p.L2117M

c.6349C>A

1 paper

NM_006015.6

p.Q2115fs

c.6343_6344fs

8 papers

NM_006015.6

p.Q2115*

c.6343C>T

2 papers

NM_006015.6

p.R2116delFs

c.6347_6348delGA

1 paper

NM_006015.6

p.L2117Q

c.6350T>A

1 paper

NM_006015.6

p.V2118delFs

c.6352delG

1 paper

NM_006015.6

p.P2114Q

c.6341C>A

7 papers

NM_006015.6

p.P2114L

c.6341C>T