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.L117F

c.349C>T

Surrounding Variants

2 papers

NM_006015.6

p.L117fs

c.349_350fs

1 paper

NM_006015.6

p.L117insFs

c.349_350ins7

1 paper

NM_006015.6

p.L117_P120del4

c.349_359del12

2 papers

NM_006015.6

p.L117P

c.350T>C

1 paper

NM_006015.6

p.T118_G124delFs

c.352_370del19

1 paper

NM_006015.6

p.N116fs

c.346_347fs

8 papers

NM_006015.6

p.T118P

c.352A>C

1 paper

NM_006015.6

p.N116Y

c.346A>T

1 paper

NM_006015.6

p.N116fs

c.346_347fs

1 paper

NM_006015.6

p.T118fs

c.352_353fs

2 papers

NM_006015.6

p.T118M

c.353C>T

1 paper

NM_006015.6

p.E119_G122delFs

c.355_365del11