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.E1775G

c.5324A>G

Surrounding Variants

2 papers

NM_006015.6

p.E1775*

c.5323G>T

1 paper

NM_006015.6

p.E1775_E1776delins

c.5325_5328delinsAGAG

2 papers

NM_006015.6

p.E1778_E1779del1

c.5334_5336delAGA

1 paper

NM_006015.6

p.E1776_E1779delFs

c.5326_5336del11

1 paper

NM_006015.6

p.E1774D

c.5322A>C

1 paper

NM_006015.6

p.E1774D

c.5322A>T

1 paper

NM_006015.6

p.E1775_E1776del1

c.5325_5327delGGA

1 paper

NM_006015.6

p.E1776K

c.5326G>A

1 paper

NM_006015.6

p.E1776Q

c.5326G>C

5 papers

NM_006015.6

p.E1776*

c.5326G>T

1 paper

NM_006015.6

p.E1774G

c.5321A>G

1 paper

NM_006015.6

p.E1776E

c.5328A>G