Varaico: Literature-Extracted Genetic Variants

COTL1

15 papers

RefSeq Summary

This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enz...

Pfam Domains

Cofilin_ADFaa 2–130UCSCCofilin/tropomyosin-type actin-binding protein

Gene Aliases

HGNC Name

coactosin like F-actin binding protein 1

HGNC Previous Names

coactosin-like 1 (Dictyostelium); coactosin-like F-actin binding protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021149.5

p.*143S

c.428A>C

Surrounding Variants

1 paper

NM_021149.5

p.D138N

c.412G>A

1 paper

NM_021149.5

p.G134delFs

c.401delC

1 paper

NM_021149.5

p.A132V

c.395C>T

1 paper

NM_021149.5

p.D123N

c.367G>A

1 paper

NM_021149.5

p.E119K

c.355G>A