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

3 papers

NM_006015.6

p.E2054*

c.6160G>T

Surrounding Variants

1 paper

NM_006015.6

p.L2053_E2054delins

c.6159_6160delinsTT

1 paper

NM_006015.6

p.L2053fs

c.6157_6158fs

1 paper

NM_006015.6

p.L2053fs

c.6157_6158fs

1 paper

NM_006015.6

p.L2053_L2061delFs

c.6159_6181del23

2 papers

NM_006015.6

p.C2052*

c.6156C>A

1 paper

NM_006015.6

p.C2052_L2053insFs

c.6156_6157insA

1 paper

NM_006015.6

p.M2055insFs

c.6164_6165ins4

1 paper

NM_006015.6

p.C2052Y

c.6155G>A

1 paper

NM_006015.6

p.M2055I

c.6165G>A

1 paper

NM_006015.6

p.M2055I

c.6165G>C

1 paper

NM_006015.6

p.M2055I

c.6165G>T

1 paper

NM_006015.6

p.C2052_L2053delFs

c.6156_6157delCT