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

Selected Variant

1 paper

NM_007284.4

p.Y241C

c.722A>G

Surrounding Variants

3 papers

NM_007284.4

p.L250F

c.748C>T

1 paper

NM_007284.4

p.E251D

c.753G>T

1 paper

NM_007284.4

p.E251D

c.753G>C

1 paper

NM_007284.4

p.Q224*

c.670C>T

1 paper

NM_007284.4

p.S273C

c.818C>G

1 paper

NM_007284.4

p.E296fs

c.886_887fs

1 paper

NM_007284.4

p.E296fs

c.886_887fs

2 papers

NM_007284.4

p.E296_I297delFs

c.888_889delTC

1 paper

NM_007284.4

p.T304M

c.911C>T

1 paper

NM_007284.4

p.A305T

c.913G>A

1 paper

NM_007284.4

p.E311K

c.931G>A

1 paper

NM_007284.4

p.A324T

c.970G>A