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.Q852H

c.2556G>C

Surrounding Variants

1 paper

NM_152641.4

p.Q852H

c.2556G>T

1 paper

NM_152641.4

p.Q852*

c.2554C>T

1 paper

NM_152641.4

p.P851S

c.2551C>T

2 papers

NM_152641.4

p.P851fs

c.2551_2552fs

1 paper

NM_152641.4

p.P850insFs

c.2548dupC

2 papers

NM_152641.4

p.P851delFs

c.2552delC

1 paper

NM_152641.4

p.T856I

c.2567C>T

1 paper

NM_152641.4

p.A849fs

c.2545_2546fs

2 papers

NM_152641.4

p.A858T

c.2572G>A

1 paper

NM_152641.4

p.V846I

c.2536G>A

2 papers

NM_152641.4

p.V846fs

c.2536_2537fs

1 paper

NM_152641.4

p.V846F

c.2536G>T