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.G125V

c.374G>T

Surrounding Variants

1 paper

NM_006015.6

p.G125A

c.374G>C

4 papers

NM_006015.6

p.G125S

c.373G>A

1 paper

NM_006015.6

p.G125C

c.373G>T

1 paper

NM_006015.6

p.G125fs

c.373_374fs

4 papers

NM_006015.6

p.G126_S128del3

c.376_383del9

1 paper

NM_006015.6

p.G125delFs

c.374delG

3 papers

NM_006015.6

p.G126S

c.376G>A

1 paper

NM_006015.6

p.G126C

c.376G>T

1 paper

NM_006015.6

p.G126D

c.377G>A

1 paper

NM_006015.6

p.G126_G127insFs

c.378_379ins4

1 paper

NM_006015.6

p.G127delFs

c.379delG

1 paper

NM_006015.6

p.G124S

c.370G>A