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.Q835_T836insA

c.2503_2507ins3

Surrounding Variants

1 paper

NM_152641.4

p.Q834R

c.2501A>G

3 papers

NM_152641.4

p.Q834*

c.2500C>T

1 paper

NM_152641.4

p.T836I

c.2507C>T

1 paper

NM_152641.4

p.S837*

c.2510C>G

1 paper

NM_152641.4

p.S832*

c.2495C>A

1 paper

NM_152641.4

p.S832P

c.2494T>C

1 paper

NM_152641.4

p.G839D

c.2516G>A

1 paper

NM_152641.4

p.Q830K

c.2488C>A

1 paper

NM_152641.4

p.Q841*

c.2521C>T

1 paper

NM_152641.4

p.V829L

c.2485G>C

1 paper

NM_152641.4

p.V829L

c.2485G>T

1 paper

NM_152641.4

p.P828L

c.2483C>T