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.S1054fs

c.3160_3161fs

Surrounding Variants

1 paper

NM_152641.4

p.A1053V

c.3158C>T

1 paper

NM_152641.4

p.G1055R

c.3163G>C

1 paper

NM_152641.4

p.G1055V

c.3164G>T

1 paper

NM_152641.4

p.E1056*

c.3166G>T

1 paper

NM_152641.4

p.E1056D

c.3168G>C

1 paper

NM_152641.4

p.E1056D

c.3168G>T

1 paper

NM_152641.4

p.Q1051K

c.3151C>A

2 papers

NM_152641.4

p.Q1051*

c.3151C>T

1 paper

NM_152641.4

p.S1057*

c.3170C>A

1 paper

NM_152641.4

p.S1057S

c.3171G>A

1 paper

NM_152641.4

p.L1059_L1065delFs

c.3175_3194del20

1 paper

NM_152641.4

p.V1049L

c.3145G>C