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

3 papers

NM_003931.3

p.K172E

c.514A>G

Surrounding Variants

1 paper

NM_003931.3

p.D171Y

c.511G>T

1 paper

NM_003931.3

p.D171N

c.511G>A

1 paper

NM_003931.3

p.R173K

c.518G>A

1 paper

NM_003931.3

p.E170Q

c.508G>C

1 paper

NM_003931.3

p.D168delFs

c.503_504delAT

1 paper

NM_003931.3

p.E175K

c.523G>A

1 paper

NM_003931.3

p.T169A

c.505A>G

1 paper

NM_003931.3

p.D168_T169insFs

c.504_505ins4

1 paper

NM_003931.3

p.D168E

c.504T>G

1 paper

NM_003931.3

p.D168E

c.504T>A

1 paper

NM_003931.3

p.D168A

c.503A>C

1 paper

NM_003931.3

p.E175_K176insFs

c.525_526insC