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

1–12 of 15 variants

3 papers

NM_021149.5

p.A92T

c.274G>A

2 papers

NM_021149.5

p.Y31F

c.92A>T

1 paper

NM_021149.5

p.V37I

c.109G>A

1 paper

NM_021149.5

p.T66A

c.196A>G

1 paper

NM_021149.5

p.K75E

c.223A>G

1 paper

NM_021149.5

p.T96M

c.287C>T

1 paper

NM_021149.5

p.T96T

c.288G>A

1 paper

NM_021149.5

p.V101M

c.301G>A

1 paper

NM_021149.5

p.K102E

c.304A>G

1 paper

NM_021149.5

p.E119K

c.355G>A

1 paper

NM_021149.5

p.D123N

c.367G>A

1 paper

NM_021149.5

p.A132V

c.395C>T