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.P136_H137del2

c.406_410del6

Surrounding Variants

2 papers

NM_006015.6

p.P136S

c.406C>T

1 paper

NM_006015.6

p.P135L

c.404C>T

1 paper

NM_006015.6

p.P136_H137delFs

c.407_410del4

1 paper

NM_006015.6

p.P135fs

c.403_404fs

3 papers

NM_006015.6

p.P135delFs

c.404delC

1 paper

NM_006015.6

p.H137D

c.409C>G

2 papers

NM_006015.6

p.H137Y

c.409C>T

1 paper

NM_006015.6

p.A134V

c.401C>T

1 paper

NM_006015.6

p.H137L

c.410A>T

1 paper

NM_006015.6

p.A134P

c.400G>C

3 papers

NM_006015.6

p.A134fs

c.400_401fs

2 papers

NM_006015.6

p.A134fs

c.400_401fs