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.T1757_D1758Splc

c.5271+2T>C

Surrounding Variants

1 paper

NM_152641.4

p.T1757_D1758Splc

c.5271+1G>A

1 paper

NM_152641.4

p.T1757S

c.5269A>T

1 paper

NM_152641.4

p.D1755insFs

c.5264_5265ins13

1 paper

NM_152641.4

p.D1755H

c.5263G>C

1 paper

NM_152641.4

p.D1755insFs

c.5263_5264insGC

1 paper

NM_152641.4

p.D1755fs

c.5263_5264fs

1 paper

NM_152641.4

p.D1755fs

c.5263_5264fs

1 paper

NM_152641.4

p.R1754_T1757del0

c.5262_5270del9

10 papers

NM_152641.4

p.R1754*

c.5260C>T

1 paper

NM_152641.4

p.R1754_T1757del4

c.5260_5270del12

1 paper

NM_152641.4

p.F1753C

c.5258T>G

1 paper

NM_152641.4

p.F1753fs

c.5257_5258fs