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.P68L

c.203C>T

Surrounding Variants

1 paper

NM_006015.6

p.P68fs

c.202_203fs

1 paper

NM_006015.6

p.L69M

c.205C>A

1 paper

NM_006015.6

p.L69L

c.205C>T

1 paper

NM_006015.6

p.P68delFs

c.202_203delCC

1 paper

NM_006015.6

p.Q67R

c.200A>G

1 paper

NM_006015.6

p.Q67L

c.200A>T

2 papers

NM_006015.6

p.L69P

c.206T>C

1 paper

NM_006015.6

p.Q67K

c.199C>A

4 papers

NM_006015.6

p.Q67*

c.199C>T

1 paper

NM_006015.6

p.L69L

c.207G>A

2 papers

NM_006015.6

p.G70R

c.208G>A

1 paper

NM_006015.6

p.P66P

c.198G>A