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.P19L

c.56C>T

Surrounding Variants

1 paper

NM_003931.3

p.R20K

c.59G>A

1 paper

NM_003931.3

p.A17delFs

c.51delT

1 paper

NM_003931.3

p.R20S

c.60A>T

1 paper

NM_003931.3

p.G21C

c.61G>T

1 paper

NM_003931.3

p.G21R

c.61G>C

1 paper

NM_003931.3

p.P19_R20delFs

c.57_60del4

1 paper

NM_003931.3

p.P19_R20del0

c.55_60del6

1 paper

NM_003931.3

p.A17_R20delFs

c.51_60del10

1 paper

NM_003931.3

p.G21D

c.62G>A

1 paper

NM_003931.3

p.L18_G21delFs

c.52_61del10

1 paper

NM_003931.3

p.A17_R20del0

c.49_60del12

1 paper

NM_003931.3

p.T16T

c.48A>G