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

2 papers

NM_152641.4

p.P797L

c.2390C>T

Surrounding Variants

1 paper

NM_152641.4

p.Q798insFs

c.2393dupA

1 paper

NM_152641.4

p.Q798fs

c.2392_2393fs

1 paper

NM_152641.4

p.Q798*

c.2392C>T

1 paper

NM_152641.4

p.Q798delFs

c.2393_2394delAG

1 paper

NM_152641.4

p.Q798H

c.2394G>C

1 paper

NM_152641.4

p.Q798H

c.2394G>T

1 paper

NM_152641.4

p.S799fs

c.2395_2396fs

1 paper

NM_152641.4

p.A795V

c.2384C>T

1 paper

NM_152641.4

p.S799N

c.2396G>A

1 paper

NM_152641.4

p.H800fs

c.2398_2399fs

3 papers

NM_152641.4

p.H800D

c.2398C>G

2 papers

NM_152641.4

p.M801delFs

c.2401_2402delAT