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.K71N

c.213G>T

Surrounding Variants

1 paper

NM_006015.6

p.K71N

c.213G>C

1 paper

NM_006015.6

p.K71_E72insFs

c.213_214insT

1 paper

NM_006015.6

p.K71R

c.212A>G

1 paper

NM_006015.6

p.E72K

c.214G>A

1 paper

NM_006015.6

p.E72fs

c.214_215fs

1 paper

NM_006015.6

p.E72*

c.214G>T

1 paper

NM_006015.6

p.K71_E72insCC

c.211_215ins6

2 papers

NM_006015.6

p.G70R

c.208G>A

1 paper

NM_006015.6

p.G70R

c.208G>C

1 paper

NM_006015.6

p.G70*

c.208G>T

1 paper

NM_006015.6

p.L73P

c.218T>C

1 paper

NM_006015.6

p.L69L

c.207G>A