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

2 papers

NM_006015.6

p.N2173I

c.6518A>T

Surrounding Variants

1 paper

NM_006015.6

p.N2173fs

c.6517_6518fs

1 paper

NM_006015.6

p.L2174R

c.6521T>G

1 paper

NM_006015.6

p.A2175fs

c.6523_6524fs

1 paper

NM_006015.6

p.A2175D

c.6524C>A

1 paper

NM_006015.6

p.L2171P

c.6512T>C

1 paper

NM_006015.6

p.L2171delFs

c.6512delT

2 papers

NM_006015.6

p.L2171fs

c.6511_6512fs

10 papers

NM_006015.6

p.Q2176fs

c.6526_6527fs

1 paper

NM_006015.6

p.Q2176E

c.6526C>G

8 papers

NM_006015.6

p.Q2176*

c.6526C>T

1 paper

NM_006015.6

p.Q2176delFs

c.6527delA

4 papers

NM_006015.6

p.Q2176delFs

c.6527_6528delAG