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.E49*

c.145G>T

Surrounding Variants

2 papers

NM_006015.6

p.E49K

c.145G>A

1 paper

NM_006015.6

p.E49G

c.146A>G

10 papers

NM_006015.6

p.E49V

c.146A>T

1 paper

NM_006015.6

p.E49_M50delFs

c.147_150del4

1 paper

NM_006015.6

p.G48G

c.144G>A

1 paper

NM_006015.6

p.G48G

c.144G>C

1 paper

NM_006015.6

p.M50fs

c.148_149fs

3 papers

NM_006015.6

p.M50V

c.148A>G

1 paper

NM_006015.6

p.M50L

c.148A>T

1 paper

NM_006015.6

p.G48R

c.142G>A

1 paper

NM_006015.6

p.G48_E49ins4

c.142_146ins12

3 papers

NM_006015.6

p.M50R

c.149T>G