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.P1252A

c.3754C>G

Surrounding Variants

1 paper

NM_006015.6

p.N1253delFs

c.3757delA

3 papers

NM_006015.6

p.N1253fs

c.3757_3758fs

1 paper

NM_006015.6

p.N1253S

c.3758A>G

1 paper

NM_006015.6

p.Q1250delFs

c.3750delG

3 papers

NM_006015.6

p.Q1250fs

c.3748_3749fs

7 papers

NM_006015.6

p.Q1250*

c.3748C>T

7 papers

NM_006015.6

p.G1254S

c.3760G>A

1 paper

NM_006015.6

p.G1254insFs

c.3760_3761insGC

3 papers

NM_006015.6

p.G1254fs

c.3760_3761fs

1 paper

NM_006015.6

p.G1254C

c.3760G>T

1 paper

NM_006015.6

p.Q1250_D1258delFs

c.3748_3773del26

1 paper

NM_006015.6

p.G1255R

c.3763G>A