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.E2165D

c.6495G>T

Surrounding Variants

1 paper

NM_006015.6

p.E2165D

c.6495G>C

1 paper

NM_006015.6

p.E2165K

c.6493G>A

1 paper

NM_006015.6

p.E2165Q

c.6493G>C

4 papers

NM_006015.6

p.E2165*

c.6493G>T

1 paper

NM_006015.6

p.R2164Q

c.6491G>A

1 paper

NM_006015.6

p.R2164L

c.6491G>T

1 paper

NM_006015.6

p.A2167fs

c.6499_6500fs

1 paper

NM_006015.6

p.R2164fs

c.6490_6491fs

3 papers

NM_006015.6

p.R2164W

c.6490C>T

1 paper

NM_006015.6

p.C2163C

c.6489C>T

1 paper

NM_006015.6

p.V2168M

c.6502G>A

1 paper

NM_006015.6

p.C2163fs

c.6487_6488fs