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.N2059K

c.6177C>G

Surrounding Variants

1 paper

NM_006015.6

p.N2059K

c.6177C>A

1 paper

NM_006015.6

p.T2060fs

c.6178_6179fs

1 paper

NM_006015.6

p.T2060_L2061insA

c.6178_6182ins3

1 paper

NM_006015.6

p.N2059fs

c.6175_6176fs

1 paper

NM_006015.6

p.L2061delFs

c.6181delT

1 paper

NM_006015.6

p.L2061fs

c.6181_6182fs

2 papers

NM_006015.6

p.E2058*

c.6172G>T

4 papers

NM_006015.6

p.L2061S

c.6182T>C

5 papers

NM_006015.6

p.R2057Q

c.6170G>A

1 paper

NM_006015.6

p.V2062I

c.6184G>A

1 paper

NM_006015.6

p.R2057G

c.6169C>G

3 papers

NM_006015.6

p.R2057W

c.6169C>T