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.S249F

c.746C>T

Surrounding Variants

1 paper

NM_003931.3

p.Y250H

c.748T>C

1 paper

NM_003931.3

p.G248R

c.742G>C

1 paper

NM_003931.3

p.G248R

c.742G>A

2 papers

NM_003931.3

p.S251L

c.752C>T

1 paper

NM_003931.3

p.M246insFs

c.736_737insAT

1 paper

NM_003931.3

p.L252insFs

c.754_755insC

1 paper

NM_003931.3

p.M246V

c.736A>G

1 paper

NM_003931.3

p.D244Y

c.730G>T

1 paper

NM_003931.3

p.L255F

c.765G>C

1 paper

NM_003931.3

p.P256Q

c.767C>A

2 papers

NM_003931.3

p.Y242D

c.724T>G

1 paper

NM_003931.3

p.T241A

c.721A>G