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.L264V

c.790C>G

Surrounding Variants

1 paper

NM_003931.3

p.Q259H

c.777G>T

1 paper

NM_003931.3

p.Q259H

c.777G>C

1 paper

NM_003931.3

p.E268V

c.803A>T

1 paper

NM_003931.3

p.E268G

c.803A>G

1 paper

NM_003931.3

p.Q259R

c.776A>G

1 paper

NM_003931.3

p.S258fs

c.772_773fs

1 paper

NM_003931.3

p.V271L

c.811G>T

1 paper

NM_003931.3

p.V271insFs

c.811_812ins17

1 paper

NM_003931.3

p.V271A

c.812T>C

1 paper

NM_003931.3

p.P256Q

c.767C>A

1 paper

NM_003931.3

p.L255F

c.765G>C

1 paper

NM_003931.3

p.V273A

c.818T>C