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

4 papers

NM_152641.4

p.R1464H

c.4391G>A

Surrounding Variants

2 papers

NM_152641.4

p.R1464C

c.4390C>T

1 paper

NM_152641.4

p.P1465S

c.4393C>T

7 papers

NM_152641.4

p.Q1462*

c.4384C>T

1 paper

NM_152641.4

p.Q1462delFs

c.4385_4386delAG

1 paper

NM_152641.4

p.V1468delFs

c.4403_4404delTT

1 paper

NM_152641.4

p.V1468fs

c.4402_4403fs

1 paper

NM_152641.4

p.S1470P

c.4408T>C

1 paper

NM_152641.4

p.S1458*

c.4373C>A

1 paper

NM_152641.4

p.S1458*

c.4373C>G

1 paper

NM_152641.4

p.S1458L

c.4373C>T

1 paper

NM_152641.4

p.S1470L

c.4409C>T

1 paper

NM_152641.4

p.P1471S

c.4411C>T