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.K15Fs

c.44delinsAGFs

Surrounding Variants

1 paper

NM_152641.4

p.G16delFs

c.47delG

1 paper

NM_152641.4

p.K15fs

c.43_44fs

2 papers

NM_152641.4

p.K15Q

c.43A>C

1 paper

NM_152641.4

p.K15K

c.45G>A

1 paper

NM_152641.4

p.R14S

c.42A>T

1 paper

NM_152641.4

p.G16*

c.46G>T

1 paper

NM_152641.4

p.G16fs

c.46_47fs

1 paper

NM_152641.4

p.R14K

c.41G>A

1 paper

NM_152641.4

p.G16E

c.47G>A

1 paper

NM_152641.4

p.R14R

c.40A>C

1 paper

NM_152641.4

p.R14fs

c.40_41fs

1 paper

NM_152641.4

p.L17F

c.49C>T