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.P279insFs

c.835_836insA

Surrounding Variants

1 paper

NM_003931.3

p.P278L

c.833C>T

1 paper

NM_003931.3

p.P280S

c.838C>T

1 paper

NM_003931.3

p.P280insFs

c.838_839insT

2 papers

NM_003931.3

p.E277V

c.830A>T

2 papers

NM_003931.3

p.E277K

c.829G>A

4 papers

NM_003931.3

p.P281L

c.842C>T

1 paper

NM_003931.3

p.P281P

c.843T>G

1 paper

NM_003931.3

p.H276R

c.827A>G

1 paper

NM_003931.3

p.P282S

c.844C>T

1 paper

NM_003931.3

p.V273A

c.818T>C

1 paper

NM_003931.3

p.G286E

c.857G>A

1 paper

NM_003931.3

p.V271A

c.812T>C