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.P1451S

c.4351C>T

Surrounding Variants

1 paper

NM_152641.4

p.P1451H

c.4352C>A

8 papers

NM_152641.4

p.G1450E

c.4349G>A

1 paper

NM_152641.4

p.L1452V

c.4354C>G

1 paper

NM_152641.4

p.N1449S

c.4346A>G

1 paper

NM_152641.4

p.L1448P

c.4343T>C

2 papers

NM_152641.4

p.S1454*

c.4361C>A

2 papers

NM_152641.4

p.S1454*

c.4361C>G

1 paper

NM_152641.4

p.S1454L

c.4361C>T

1 paper

NM_152641.4

p.D1446Y

c.4336G>T

1 paper

NM_152641.4

p.T1445I

c.4334C>T

1 paper

NM_152641.4

p.N1457fs

c.4369_4370fs

1 paper

NM_152641.4

p.T1445A

c.4333A>G