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

2 papers

NM_006015.6

p.M1759I

c.5277G>T

Surrounding Variants

2 papers

NM_006015.6

p.M1759I

c.5277G>A

2 papers

NM_006015.6

p.M1759I

c.5277G>C

1 paper

NM_006015.6

p.M1759_E1760delins

c.5277_5278delinsAT

1 paper

NM_006015.6

p.E1760delFs

c.5279_5280delAG

2 papers

NM_006015.6

p.E1760fs

c.5278_5279fs

6 papers

NM_006015.6

p.E1760*

c.5278G>T

1 paper

NM_006015.6

p.M1759insFs

c.5276_5277insG

2 papers

NM_006015.6

p.G1761C

c.5281G>T

1 paper

NM_006015.6

p.G1761insFs

c.5282_5283insC

1 paper

NM_006015.6

p.A1757V

c.5270C>T

1 paper

NM_006015.6

p.G1762fs

c.5284_5285fs

1 paper

NM_006015.6

p.G1762W

c.5284G>T