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.T16insFs

c.47_48ins7

Surrounding Variants

1 paper

NM_003931.3

p.T16T

c.48A>G

1 paper

NM_003931.3

p.H15delFs

c.43delG

1 paper

NM_003931.3

p.C14*

c.42C>A

1 paper

NM_003931.3

p.A17delFs

c.51delT

1 paper

NM_003931.3

p.C14S

c.41G>C

1 paper

NM_003931.3

p.C14G

c.40T>G

1 paper

NM_003931.3

p.L13*

c.38T>A

1 paper

NM_003931.3

p.P19L

c.56C>T

1 paper

NM_003931.3

p.H12H

c.36C>T

1 paper

NM_003931.3

p.H12Q

c.36C>G

1 paper

NM_003931.3

p.H12_L13insFs

c.36_37insA

1 paper

NM_003931.3

p.R20K

c.59G>A