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.Q2209fs

c.6625_6626fs

Surrounding Variants

3 papers

NM_006015.6

p.Q2209fs

c.6625_6626fs

7 papers

NM_006015.6

p.Q2209*

c.6625C>T

1 paper

NM_006015.6

p.Q2209_A2213del0

c.6627_6638del12

1 paper

NM_006015.6

p.F2208F

c.6624C>T

1 paper

NM_006015.6

p.F2208C

c.6623T>G

1 paper

NM_006015.6

p.Q2209delFs

c.6625delC

2 papers

NM_006015.6

p.F2208fs

c.6622_6623fs

1 paper

NM_006015.6

p.Q2210R

c.6629A>G

1 paper

NM_006015.6

p.F2208_S2211del4

c.6622_6632del12

2 papers

NM_006015.6

p.Q2207R

c.6620A>G

1 paper

NM_006015.6

p.Q2210H

c.6630G>C

1 paper

NM_006015.6

p.Q2210H

c.6630G>T