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.S441A

c.1321T>G

Surrounding Variants

1 paper

NM_003931.3

p.S441L

c.1322C>T

1 paper

NM_003931.3

p.S441insFs

c.1322_1323ins5

2 papers

NM_003931.3

p.P442H

c.1325C>A

1 paper

NM_003931.3

p.P439L

c.1316C>T

1 paper

NM_003931.3

p.P433_I437del0

c.1298_1309del12

1 paper

NM_003931.3

p.V445A

c.1334T>C

2 papers

NM_003931.3

p.G436D

c.1307G>A

1 paper

NM_003931.3

p.T446T

c.1338A>C

1 paper

NM_003931.3

p.A447insFs

c.1339_1340insG

1 paper

NM_003931.3

p.A447D

c.1340C>A

1 paper

NM_003931.3

p.L448F

c.1342C>T

1 paper

NM_003931.3

p.P434S

c.1300C>T