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.Q745E

c.2233C>G

Surrounding Variants

1 paper

NM_152641.4

p.Q745K

c.2233C>A

2 papers

NM_152641.4

p.Q745*

c.2233C>T

2 papers

NM_152641.4

p.Q745R

c.2234A>G

1 paper

NM_152641.4

p.V744fs

c.2230_2231fs

1 paper

NM_152641.4

p.N746S

c.2237A>G

1 paper

NM_152641.4

p.S742Y

c.2225C>A

2 papers

NM_152641.4

p.S742F

c.2225C>T

1 paper

NM_152641.4

p.S748fs

c.2242_2243fs

1 paper

NM_152641.4

p.S748R

c.2242A>C

2 papers

NM_152641.4

p.S742fs

c.2224_2225fs

1 paper

NM_152641.4

p.S742_V743delFs

c.2224_2227del4

1 paper

NM_152641.4

p.S741N

c.2222G>A