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.R65*

c.193A>T

Surrounding Variants

1 paper

NM_003931.3

p.R65T

c.194G>C

1 paper

NM_003931.3

p.R65K

c.194G>A

1 paper

NM_003931.3

p.F64S

c.191T>C

1 paper

NM_003931.3

p.S63delFs

c.189delG

1 paper

NM_003931.3

p.V66F

c.196G>T

1 paper

NM_003931.3

p.V66L

c.196G>C

1 paper

NM_003931.3

p.V66I

c.196G>A

1 paper

NM_003931.3

p.V66V

c.198C>T

1 paper

NM_003931.3

p.S61_F62delFs

c.183_186del4

1 paper

NM_003931.3

p.F52_S61del10

c.154_182del30

1 paper

NM_003931.3

p.V66_N67insFs

c.196_199dup4

1 paper

NM_003931.3

p.F62insFs

c.185_186insA