Varaico: Literature-Extracted Genetic Variants

TWF1

31 papers

RefSeq Summary

This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and i...

Pfam Domains

Cofilin_ADFaa 6–139UCSCCofilin/tropomyosin-type actin-binding protein

Cofilin_ADFaa 179–313UCSCCofilin/tropomyosin-type actin-binding protein

Gene Aliases

HGNC Name

twinfilin actin binding protein 1

HGNC Previous Symbol

PTK9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002822.5

p.E127A

c.380A>C

Surrounding Variants

1 paper

NM_002822.5

p.D128A

c.383A>C

1 paper

NM_002822.5

p.K135E

c.403A>G

1 paper

NM_002822.5

p.Y137F

c.410A>T

1 paper

NM_002822.5

p.D119H

c.355G>C

2 papers

NM_002822.5

p.R96C

c.286C>T

1 paper

NM_002822.5

p.D165D

c.495C>T

1 paper

NM_002822.5

p.Q173E

c.517C>G

1 paper

NM_002822.5

p.N209delFs

c.626delT

1 paper

NM_002822.5

p.D232Y

c.694G>T

1 paper

NM_002822.5

p.R278H

c.833G>A

2 papers

NM_002822.5

p.F56L

c.168T>G

2 papers

NM_002822.5

p.F56L

c.168T>A