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.R141Splc

c.423-4T>C

Surrounding Variants

1 paper

NM_003931.3

p.R141Splc

c.423-1G>C

1 paper

NM_003931.3

p.D142V

c.425A>T

1 paper

NM_003931.3

p.D143_G144Fs

c.429_432delinsGGTFs

1 paper

NM_003931.3

p.K145N

c.435A>T

1 paper

NM_003931.3

p.K145N

c.435A>C

2 papers

NM_003931.3

p.T152I

c.455C>T

1 paper

NM_003931.3

p.N153K

c.459T>G

3 papers

NM_003931.3

p.F157S

c.470T>C

1 paper

NM_003931.3

p.F158L

c.474T>G

1 paper

NM_003931.3

p.D159N

c.475G>A

1 paper

NM_003931.3

p.L160L

c.478C>T

1 paper

NM_003931.3

p.W161R

c.481T>C