AVIL (advillin)

2014-08-01  

Identity

HGNC
LOCATION
12q14.1
LOCUSID
ALIAS
ADVIL,DOC6,NPHS21,p92
FUSION GENES

Other Information

Locus ID:

NCBI: 10677
MIM: 613397
HGNC: 14188
Ensembl: ENSG00000135407

Variants:

dbSNP: 10677
ClinVar: 10677
TCGA: ENSG00000135407
COSMIC: AVIL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135407ENST00000257861O75366
ENSG00000135407ENST00000549851F8VNY0
ENSG00000135407ENST00000549994F8VVU1

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150966332004Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements.18
180226352008Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.15
290586902017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.10

Citation

Dessen P

AVIL (advillin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54148/avil