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.L13_P17del0

c.37_51del15

Surrounding Variants

1 paper

NM_006015.6

p.S12R

c.36C>A

1 paper

NM_006015.6

p.S12R

c.36C>G

1 paper

NM_006015.6

p.L13M

c.37C>A

2 papers

NM_006015.6

p.L13L

c.37C>T

1 paper

NM_006015.6

p.L13delFs

c.38_39delTG

8 papers

NM_006015.6

p.S12N

c.35G>A

2 papers

NM_006015.6

p.S12T

c.35G>C

4 papers

NM_006015.6

p.S12I

c.35G>T

1 paper

NM_006015.6

p.S12_L13delFs

c.36_37delCC

1 paper

NM_006015.6

p.S12R

c.34A>C

1 paper

NM_006015.6

p.S12delFs

c.35delG

1 paper

NM_006015.6

p.S12delFs

c.35_36delGC