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.N2044K

c.6132C>G

Surrounding Variants

1 paper

NM_006015.6

p.N2044K

c.6132C>A

1 paper

NM_006015.6

p.K2045fs

c.6133_6134fs

1 paper

NM_006015.6

p.N2044S

c.6131A>G

1 paper

NM_006015.6

p.K2045*

c.6133A>T

2 papers

NM_006015.6

p.K2045_V2046delFs

c.6134_6138del5

6 papers

NM_006015.6

p.N2044D

c.6130A>G

1 paper

NM_006015.6

p.K2045R

c.6134A>G

1 paper

NM_006015.6

p.K2045N

c.6135A>C

1 paper

NM_006015.6

p.K2045N

c.6135A>T

1 paper

NM_006015.6

p.C2043*

c.6129C>A

1 paper

NM_006015.6

p.N2044_E2047del4

c.6130_6140del12

1 paper

NM_006015.6

p.V2046M

c.6136G>A