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.Q2284H

c.6852G>T

Surrounding Variants

1 paper

NM_006015.6

p.Q2284H

c.6852G>C

1 paper

NM_006015.6

p.Q2284R

c.6851A>G

1 paper

NM_006015.6

p.Q2284L

c.6851A>T

2 papers

NM_006015.6

p.Q2284*

c.6850C>T

1 paper

NM_006015.6

p.Q2284delFs

c.6851_6852delAG

1 paper

NM_006015.6

p.Q2284fs

c.6850_6851fs

1 paper

NM_006015.6

p.G2283D

c.6848G>A

1 paper

NM_006015.6

p.G2283fs

c.6847_6848fs

1 paper

NM_006015.6

p.I2282T

c.6845T>C

3 papers

NM_006015.6

p.L2281F

c.6843G>C

3 papers

NM_006015.6

p.L2281F

c.6843G>T

1 paper

NM_006015.6

p.L2281*

c.6842T>A