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.F56Y

c.167T>A

Surrounding Variants

2 papers

NM_002822.5

p.F56L

c.168T>G

2 papers

NM_002822.5

p.F56L

c.166T>C

2 papers

NM_002822.5

p.F56L

c.168T>A

1 paper

NM_002822.5

p.D52delFs

c.156delA

1 paper

NM_002822.5

p.K51N

c.153G>T

1 paper

NM_002822.5

p.K51N

c.153G>C

1 paper

NM_002822.5

p.S48F

c.143C>T

1 paper

NM_002822.5

p.D47E

c.141T>A

2 papers

NM_002822.5

p.R96C

c.286C>T

1 paper

NM_002822.5

p.D119H

c.355G>C

1 paper

NM_002822.5

p.N22K

c.66T>A

1 paper

NM_002822.5

p.E127A

c.380A>C