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.R1833P

c.5498G>C

Surrounding Variants

3 papers

NM_006015.6

p.R1833H

c.5498G>A

2 papers

NM_006015.6

p.R1833insFs

c.5498dupG

1 paper

NM_006015.6

p.R1833fs

c.5497_5498fs

7 papers

NM_006015.6

p.R1833C

c.5497C>T

1 paper

NM_006015.6

p.R1833_V1834insFs

c.5499_5500insC

1 paper

NM_006015.6

p.G1832G

c.5496G>C

2 papers

NM_006015.6

p.V1834fs

c.5500_5501fs

1 paper

NM_006015.6

p.R1833_G1840delFs

c.5498_5520del23

9 papers

NM_006015.6

p.Q1835*

c.5503C>T

2 papers

NM_006015.6

p.Q1835R

c.5504A>G

1 paper

NM_006015.6

p.L1831H

c.5492T>A

1 paper

NM_006015.6

p.L1831P

c.5492T>C