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.S1248*

c.3743C>G

Surrounding Variants

3 papers

NM_006015.6

p.S1248*

c.3743C>A

1 paper

NM_006015.6

p.S1248L

c.3743C>T

1 paper

NM_006015.6

p.G1249_N1253delFs

c.3745_3757del13

1 paper

NM_006015.6

p.G1249fs

c.3745_3746fs

1 paper

NM_006015.6

p.Q1250_D1258delFs

c.3748_3773del26

3 papers

NM_006015.6

p.Q1250fs

c.3748_3749fs

7 papers

NM_006015.6

p.Q1250*

c.3748C>T

1 paper

NM_006015.6

p.Q1250delFs

c.3750delG

1 paper

NM_006015.6

p.M1246_G1249delFs

c.3738_3747del10

1 paper

NM_006015.6

p.F1245Y

c.3734T>A

1 paper

NM_006015.6

p.F1245fs

c.3733_3734fs

1 paper

NM_006015.6

p.F1245fs

c.3733_3734fs