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.D2157Y

c.6469G>T

Surrounding Variants

1 paper

NM_006015.6

p.D2157D

c.6471C>T

1 paper

NM_006015.6

p.R2158_K2159del2

c.6472_6476del6

1 paper

NM_006015.6

p.S2156N

c.6467G>A

1 paper

NM_006015.6

p.R2158R

c.6472C>A

2 papers

NM_006015.6

p.R2158G

c.6472C>G

37 papers

NM_006015.6

p.R2158*

c.6472C>T

1 paper

NM_006015.6

p.R2158_K2159delFs

c.6473_6476del4

5 papers

NM_006015.6

p.R2158Q

c.6473G>A

1 paper

NM_006015.6

p.R2158insFs

c.6473_6474insA

1 paper

NM_006015.6

p.L2155R

c.6464T>G

1 paper

NM_006015.6

p.K2159fs

c.6475_6476fs

1 paper

NM_006015.6

p.L2155fs

c.6463_6464fs