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.S2272L

c.6815C>T

Surrounding Variants

3 papers

NM_006015.6

p.S2272*

c.6815C>A

1 paper

NM_006015.6

p.S2272insFs

c.6815_6816ins4

3 papers

NM_006015.6

p.S2272*

c.6815C>G

1 paper

NM_006015.6

p.Q2273fs

c.6817_6818fs

2 papers

NM_006015.6

p.Q2273*

c.6817C>T

1 paper

NM_006015.6

p.Q2273fs

c.6817_6818fs

1 paper

NM_006015.6

p.V2274F

c.6820G>T

2 papers

NM_006015.6

p.L2270fs

c.6808_6809fs

1 paper

NM_006015.6

p.I2275fs

c.6823_6824fs

10 papers

NM_006015.6

p.S2269*

c.6806C>A

10 papers

NM_006015.6

p.S2269*

c.6806C>G

2 papers

NM_006015.6

p.S2269L

c.6806C>T