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.E119_G122delFs

c.355_365del11

Surrounding Variants

2 papers

NM_006015.6

p.T118M

c.353C>T

8 papers

NM_006015.6

p.T118P

c.352A>C

1 paper

NM_006015.6

p.T118fs

c.352_353fs

1 paper

NM_006015.6

p.T118_G124delFs

c.352_370del19

1 paper

NM_006015.6

p.E119Q

c.355G>C

2 papers

NM_006015.6

p.E119fs

c.355_356fs

3 papers

NM_006015.6

p.E119*

c.355G>T

1 paper

NM_006015.6

p.E119_G124delFs

c.356_372del17

2 papers

NM_006015.6

p.E119A

c.356A>C

2 papers

NM_006015.6

p.L117P

c.350T>C

2 papers

NM_006015.6

p.L117fs

c.349_350fs

1 paper

NM_006015.6

p.L117insFs

c.349_350ins7