Varaico: Literature-Extracted Genetic Variants

AVIL

102 papers

RefSeq Summary

The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the dev...

Pfam Domains

Gelsolinaa 23–105UCSCGelsolin repeat

Gelsolinaa 143–217UCSCGelsolin repeat

Gelsolinaa 263–340UCSCGelsolin repeat

Gelsolinaa 404–486UCSCGelsolin repeat

Gelsolinaa 523–592UCSCGelsolin repeat

Gelsolinaa 627–705UCSCGelsolin repeat

Gene Aliases

HGNC Name

advillin

HGNC Alias Symbols

p92; FLJ12386; ADVIL; DOC6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006576.4

p.I250V

c.748A>G

Surrounding Variants

1 paper

NM_006576.4

p.R229*

c.685C>T

1 paper

NM_006576.4

p.K221T

c.662A>C

6 papers

NM_006576.4

p.K204E

c.610A>G

3 papers

NM_006576.4

p.R199*

c.595C>T

1 paper

NM_006576.4

p.R195Q

c.584G>A

1 paper

NM_006576.4

p.R195*

c.583C>T

1 paper

NM_006576.4

p.A187D

c.560C>A

2 papers

NM_006576.4

p.R184H

c.551G>A

1 paper

NM_006576.4

p.N175D

c.523A>G

1 paper

NM_006576.4

p.R270G

c.808A>G

1 paper

NM_006576.4

p.Y283C

c.848A>G

1 paper

NM_006576.4

p.I284_L285insFs

c.852_853ins4