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.A2099V

c.6296C>T

Surrounding Variants

1 paper

NM_006015.6

p.Q2100_P2102insFs

c.6299_6306dup8

1 paper

NM_006015.6

p.E2098D

c.6294A>C

1 paper

NM_006015.6

p.E2098D

c.6294A>T

6 papers

NM_006015.6

p.Q2100*

c.6298C>T

1 paper

NM_006015.6

p.E2098K

c.6292G>A

1 paper

NM_006015.6

p.D2101insFs

c.6301_6302dupGA

1 paper

NM_006015.6

p.E2098fs

c.6292_6293fs

2 papers

NM_006015.6

p.E2098*

c.6292G>T

1 paper

NM_006015.6

p.D2101fs

c.6301_6302fs

2 papers

NM_006015.6

p.D2101A

c.6302A>C

1 paper

NM_006015.6

p.D2101delFs

c.6303delC

1 paper

NM_006015.6

p.D2101delins

c.6302_6303delinsCA