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.S241_A245del5

c.721_734del15

Surrounding Variants

6 papers

NM_006015.6

p.G240D

c.719G>A

2 papers

NM_006015.6

p.G240A

c.719G>C

1 paper

NM_006015.6

p.S241T

c.721T>A

1 paper

NM_006015.6

p.S241P

c.721T>C

2 papers

NM_006015.6

p.S241fs

c.721_722fs

1 paper

NM_006015.6

p.S241delFs

c.723delC

1 paper

NM_006015.6

p.S241fs

c.721_722fs

1 paper

NM_006015.6

p.S241_A245delFs

c.722_735del14

1 paper

NM_006015.6

p.S241_S249delFs

c.722_747del26

3 papers

NM_006015.6

p.S241Y

c.722C>A

3 papers

NM_006015.6

p.S241C

c.722C>G

9 papers

NM_006015.6

p.S241F

c.722C>T