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.E203delFs

c.607delC

Surrounding Variants

1 paper

NM_003931.3

p.Q205insFs

c.614dupA

1 paper

NM_003931.3

p.D199V

c.596A>T

1 paper

NM_003931.3

p.H198insFs

c.593_594insA

3 papers

NM_003931.3

p.A208insFs

c.622_623insG

1 paper

NM_003931.3

p.A208A

c.624C>G

1 paper

NM_003931.3

p.A196A

c.588A>C

2 papers

NM_003931.3

p.E212Q

c.634G>C

1 paper

NM_003931.3

p.P194P

c.582A>G

1 paper

NM_003931.3

p.E212D

c.636G>T

1 paper

NM_003931.3

p.L213R

c.638T>G

1 paper

NM_003931.3

p.K192insFs

c.576dupA

1 paper

NM_003931.3

p.Q181_K192insFs

c.542_576dup35