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.A343_A347del0

c.1029_1040del12

Surrounding Variants

1 paper

NM_006015.6

p.A341_A342ins6

c.1021_1025ins18

1 paper

NM_006015.6

p.A341V

c.1022C>T

1 paper

NM_006015.6

p.A340S

c.1018G>T

1 paper

NM_006015.6

p.A340fs

c.1018_1019fs

1 paper

NM_006015.6

p.A342_A343del1

c.1026_1028delGGC

1 paper

NM_006015.6

p.A339D

c.1016C>A

1 paper

NM_006015.6

p.A339_A341delFs

c.1017_1021del5

1 paper

NM_006015.6

p.A342T

c.1024G>A

2 papers

NM_006015.6

p.A342V

c.1025C>T

1 paper

NM_006015.6

p.A339T

c.1015G>A

8 papers

NM_006015.6

p.A339fs

c.1015_1016fs

5 papers

NM_006015.6

p.A339fs

c.1015_1016fs