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.D1488N

c.4462G>A

Surrounding Variants

1 paper

NM_152641.4

p.D1488H

c.4462G>C

1 paper

NM_152641.4

p.P1487_D1488Fs

c.4460_4464delinsAAAAGTAFs

1 paper

NM_152641.4

p.P1487S

c.4459C>T

1 paper

NM_152641.4

p.P1487fs

c.4459_4460fs

3 papers

NM_152641.4

p.S1489*

c.4466C>A

3 papers

NM_152641.4

p.S1489*

c.4466C>G

1 paper

NM_152641.4

p.S1489L

c.4466C>T

2 papers

NM_152641.4

p.G1490*

c.4468G>T

1 paper

NM_152641.4

p.G1490A

c.4469G>C

1 paper

NM_152641.4

p.S1491P

c.4471T>C

1 paper

NM_152641.4

p.S1491*

c.4472C>A

1 paper

NM_152641.4

p.S1491*

c.4472C>G