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.Q1313*

c.3937C>T

Surrounding Variants

2 papers

NM_152641.4

p.Q1313P

c.3938A>C

1 paper

NM_152641.4

p.S1314fs

c.3940_3941fs

1 paper

NM_152641.4

p.I1312L

c.3934A>C

1 paper

NM_152641.4

p.S1314delFs

c.3941_3942delGT

1 paper

NM_152641.4

p.K1311*

c.3931A>T

1 paper

NM_152641.4

p.E1315K

c.3943G>A

1 paper

NM_152641.4

p.E1315*

c.3943G>T

1 paper

NM_152641.4

p.T1316A

c.3946A>G

2 papers

NM_152641.4

p.G1310R

c.3928G>A

2 papers

NM_152641.4

p.G1310R

c.3928G>C

1 paper

NM_152641.4

p.G1310fs

c.3928_3929fs

4 papers

NM_152641.4

p.S1309*

c.3926C>A