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.E2145D

c.6435G>T

Surrounding Variants

1 paper

NM_006015.6

p.E2145D

c.6435G>C

1 paper

NM_006015.6

p.K2146fs

c.6436_6437fs

1 paper

NM_006015.6

p.K2146fs

c.6436_6437fs

2 papers

NM_006015.6

p.E2145delFs

c.6435delG

1 paper

NM_006015.6

p.K2146R

c.6437A>G

1 paper

NM_006015.6

p.K2146M

c.6437A>T

1 paper

NM_006015.6

p.L2147del1

c.6439_6440delTTG

2 papers

NM_006015.6

p.E2145fs

c.6433_6434fs

1 paper

NM_006015.6

p.L2144P

c.6431T>C

1 paper

NM_006015.6

p.L2147fs

c.6439_6440fs

1 paper

NM_006015.6

p.L2144fs

c.6430_6431fs

1 paper

NM_006015.6

p.L2147S

c.6440T>C