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

3 papers

NM_006015.6

p.E1895*

c.5683G>T

Surrounding Variants

2 papers

NM_006015.6

p.G1896delFs

c.5688delG

1 paper

NM_006015.6

p.Q1894R

c.5681A>G

1 paper

NM_006015.6

p.G1896_P1899del4

c.5686_5696del12

5 papers

NM_006015.6

p.Q1894*

c.5680C>T

1 paper

NM_006015.6

p.Q1894fs

c.5680_5681fs

2 papers

NM_006015.6

p.D1893E

c.5679C>A

2 papers

NM_006015.6

p.D1893E

c.5679C>G

1 paper

NM_006015.6

p.D1893_Q1894delins

c.5679_5680delinsGT

3 papers

NM_006015.6

p.G1896A

c.5687G>C

1 paper

NM_006015.6

p.G1896_P1897delFs

c.5688_5689delGC

1 paper

NM_006015.6

p.Q1894insFs

c.5680dupC

1 paper

NM_006015.6

p.P1898insFs

c.5693dupC