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.R186C

c.556C>T

Surrounding Variants

1 paper

NM_003931.3

p.R186insFs

c.557dupG

1 paper

NM_003931.3

p.R186insFs

c.556_557dupCG

1 paper

NM_003931.3

p.N183_R186del4

c.547_557del12

1 paper

NM_003931.3

p.L184insFs

c.551_552insC

1 paper

NM_003931.3

p.K182E

c.544A>G

1 paper

NM_003931.3

p.P190fs

c.568_569fs

3 papers

NM_003931.3

p.Q181*

c.541C>T

1 paper

NM_003931.3

p.E191A

c.572A>C

1 paper

NM_003931.3

p.K192insFs

c.576dupA

1 paper

NM_003931.3

p.Q181_K192insFs

c.542_576dup35

1 paper

NM_003931.3

p.P194P

c.582A>G

1 paper

NM_003931.3

p.A196A

c.588A>C