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

2 papers

NM_006015.6

p.S2113fs

c.6337_6338fs

Surrounding Variants

1 paper

NM_006015.6

p.S2113P

c.6337T>C

1 paper

NM_006015.6

p.S2113A

c.6337T>G

1 paper

NM_006015.6

p.P2114delFs

c.6341delC

4 papers

NM_006015.6

p.S2113F

c.6338C>T

1 paper

NM_006015.6

p.P2114fs

c.6340_6341fs

3 papers

NM_006015.6

p.L2112F

c.6334C>T

1 paper

NM_006015.6

p.P2114S

c.6340C>T

1 paper

NM_006015.6

p.P2114Q

c.6341C>A

7 papers

NM_006015.6

p.P2114L

c.6341C>T

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