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

2 papers

NM_003931.3

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_003931.3

p.M1I

c.3G>T

4 papers

NM_003931.3

p.M1V

c.1A>G

1 paper

NM_003931.3

p.P2S

c.4C>T

1 paper

NM_003931.3

p.P2insFs

c.4_5insT

1 paper

NM_003931.3

p.M1insFs

c.3dupG

2 papers

NM_003931.3

p.P2T

c.4C>A

1 paper

NM_003931.3

p.P2L

c.5C>T

1 paper

NM_003931.3

p.M1_P2delFs

c.1_4del4

2 papers

NM_003931.3

p.L3L

c.7C>T

1 paper

NM_003931.3

p.V4M

c.10G>A

1 paper

NM_003931.3

p.V4V

c.12G>A

1 paper

NM_003931.3

p.K5E

c.13A>G