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.S1500*

c.4499C>A

Surrounding Variants

2 papers

NM_152641.4

p.S1500*

c.4499C>G

1 paper

NM_152641.4

p.A1498V

c.4493C>T

3 papers

NM_152641.4

p.V1503I

c.4507G>A

1 paper

NM_152641.4

p.V1503L

c.4507G>C

1 paper

NM_152641.4

p.V1503A

c.4508T>C

1 paper

NM_152641.4

p.P1497S

c.4489C>T

1 paper

NM_152641.4

p.R1504W

c.4510C>T

2 papers

NM_152641.4

p.S1496F

c.4487C>T

2 papers

NM_152641.4

p.R1504Q

c.4511G>A

1 paper

NM_152641.4

p.S1505F

c.4514C>T

1 paper

NM_152641.4

p.H1495fs

c.4483_4484fs

1 paper

NM_152641.4

p.S1494T

c.4480T>A