Varaico: Literature-Extracted Genetic Variants

ARID2

949 papers

RefSeq Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulati...

Pfam Domains

ARIDaa 15–101UCSCARID/BRIGHT DNA binding domain

RFX_DNA_bindingaa 521–603UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 2

HGNC Alias Symbols

KIAA1557; DKFZp686G052; FLJ30619; BAF200; SMARCF3; ZIPZAP; p200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152641.4

p.T1540_I1541delFs

c.4619_4622del4

Surrounding Variants

1 paper

NM_152641.4

p.T1540fs

c.4618_4619fs

1 paper

NM_152641.4

p.T1540K

c.4619C>A

1 paper

NM_152641.4

p.I1541fs

c.4621_4622fs

1 paper

NM_152641.4

p.I1538_A1547del10

c.4612_4640del30

1 paper

NM_152641.4

p.D1543Y

c.4627G>T

1 paper

NM_152641.4

p.P1544S

c.4630C>T

1 paper

NM_152641.4

p.V1536fs

c.4606_4607fs

1 paper

NM_152641.4

p.A1547_M1553delFs

c.4640_4659del20

1 paper

NM_152641.4

p.V1536_R1537delFs

c.4607_4610del4

1 paper

NM_152641.4

p.N1545S

c.4634A>G

2 papers

NM_152641.4

p.N1546D

c.4636A>G

1 paper

NM_152641.4

p.N1546S

c.4637A>G