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

10 papers

NM_152641.4

p.R274*

c.820C>T

Surrounding Variants

2 papers

NM_152641.4

p.R274Q

c.821G>A

2 papers

NM_152641.4

p.K275delFs

c.824delA

1 paper

NM_152641.4

p.K275_E282del8

c.823_845del24

1 paper

NM_152641.4

p.K275fs

c.823_824fs

1 paper

NM_152641.4

p.P273S

c.817C>T

1 paper

NM_152641.4

p.P272L

c.815C>T

1 paper

NM_152641.4

p.P272S

c.814C>T

2 papers

NM_152641.4

p.H271Y

c.811C>T

2 papers

NM_152641.4

p.G277D

c.830G>A

1 paper

NM_152641.4

p.I278F

c.832A>T

1 paper

NM_152641.4

p.N279insFs

c.835_836insA

1 paper

NM_152641.4

p.N279_D280insFs

c.836_839dup4