Varaico: Literature-Extracted Genetic Variants

TWF2

32 papers

RefSeq Summary

The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is...

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 2

HGNC Previous Symbol

PTK9L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

3 papers

NM_007284.4

p.L250F

c.748C>T

2 papers

NM_007284.4

p.A2T

c.4G>A

2 papers

NM_007284.4

p.A142A

c.426G>A

2 papers

NM_007284.4

p.E185Q

c.553G>C

2 papers

NM_007284.4

p.E296_I297delFs

c.888_889delTC

1 paper

NM_007284.4

p.I28L

c.82A>C

1 paper

NM_007284.4

p.E33K

c.97G>A

1 paper

NM_007284.4

p.E33V

c.98A>T

1 paper

NM_007284.4

p.E35Splc

c.103+179A>G

1 paper

NM_007284.4

p.L58V

c.172C>G

1 paper

NM_007284.4

p.Q76R

c.227A>G

1 paper

NM_007284.4

p.A78T

c.232G>A