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.R1749*

c.5245A>T

Surrounding Variants

1 paper

NM_152641.4

p.S1748*

c.5243C>A

1 paper

NM_152641.4

p.S1748*

c.5243C>G

1 paper

NM_152641.4

p.L1751F

c.5251C>T

1 paper

NM_152641.4

p.L1751P

c.5252T>C

1 paper

NM_152641.4

p.L1751_R1754del0

c.5253_5261del9

1 paper

NM_152641.4

p.R1745S

c.5235G>C

1 paper

NM_152641.4

p.R1745S

c.5235G>T

1 paper

NM_152641.4

p.R1745fs

c.5233_5234fs

1 paper

NM_152641.4

p.F1753fs

c.5257_5258fs

1 paper

NM_152641.4

p.F1753C

c.5258T>G

1 paper

NM_152641.4

p.R1754_T1757del4

c.5260_5270del12

10 papers

NM_152641.4

p.R1754*

c.5260C>T