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.L1294fs

c.3880_3881fs

Surrounding Variants

1 paper

NM_152641.4

p.L1294*

c.3881T>A

1 paper

NM_152641.4

p.L1294*

c.3881T>G

1 paper

NM_152641.4

p.L1293F

c.3877C>T

1 paper

NM_152641.4

p.G1296fs

c.3886_3887fs

1 paper

NM_152641.4

p.G1296E

c.3887G>A

1 paper

NM_152641.4

p.R1297*

c.3889A>T

1 paper

NM_152641.4

p.G1291fs

c.3871_3872fs

1 paper

NM_152641.4

p.V1290A

c.3869T>C

2 papers

NM_152641.4

p.V1290M

c.3868G>A

1 paper

NM_152641.4

p.V1290L

c.3868G>C

1 paper

NM_152641.4

p.V1290L

c.3868G>T

2 papers

NM_152641.4

p.M1288I

c.3864G>A