Varaico: Literature-Extracted Genetic Variants

WASF1

427 papers

RefSeq Summary

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskelet...

Pfam Domains

SCAR_helicalaa 28–86UCSCSCAR helical domain

WAVE5_2ndaa 115–156UCSCWAVE5 second domain

WH2aa 494–521UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 1

HGNC Alias Symbols

WAVE1; SCAR1; KIAA0269; WAVE; WAVE-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003931.3

p.G302insFs

c.904_905insC

Surrounding Variants

1 paper

NM_003931.3

p.G302R

c.904G>C

1 paper

NM_003931.3

p.T301T

c.903A>G

1 paper

NM_003931.3

p.T301_G302del2

c.901_905del6

2 papers

NM_003931.3

p.A300S

c.898G>T

1 paper

NM_003931.3

p.E305G

c.914A>G

1 paper

NM_003931.3

p.P308S

c.922C>T

1 paper

NM_003931.3

p.Q309R

c.926A>G

1 paper

NM_003931.3

p.S310A

c.928T>G

1 paper

NM_003931.3

p.S310L

c.929C>T

1 paper

NM_003931.3

p.T316T

c.948A>G

1 paper

NM_003931.3

p.V318A

c.953T>C

1 paper

NM_003931.3

p.F319Y

c.956T>A