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.L76*

c.227T>A

Surrounding Variants

1 paper

NM_003931.3

p.R75insFs

c.224_225insA

1 paper

NM_003931.3

p.D74H

c.220G>C

1 paper

NM_003931.3

p.D74N

c.220G>A

1 paper

NM_003931.3

p.R72R

c.216T>A

1 paper

NM_003931.3

p.R72P

c.215G>C

1 paper

NM_003931.3

p.R72H

c.215G>A

1 paper

NM_003931.3

p.R72C

c.214C>T

1 paper

NM_003931.3

p.T81R

c.242C>G

1 paper

NM_003931.3

p.E71delFs

c.211delC

1 paper

NM_003931.3

p.E71insFs

c.211_212ins5

1 paper

NM_003931.3

p.Q82H

c.246G>T

1 paper

NM_003931.3

p.Q82H

c.246G>C