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

1–12 of 410 variants

12 papers

NM_003931.3

p.S343_M344insFs

c.1029_1030insT

7 papers

NM_003931.3

p.R506*

c.1516C>T

6 papers

NM_003931.3

p.E89*

c.265G>T

4 papers

NM_003931.3

p.M1V

c.1A>G

4 papers

NM_003931.3

p.P281L

c.842C>T

4 papers

NM_003931.3

p.I494Fs

c.1482delinsGCCAGGFs

4 papers

NM_003931.3

p.Q520*

c.1558C>T

3 papers

NM_003931.3

p.F157S

c.470T>C

3 papers

NM_003931.3

p.K172E

c.514A>G

3 papers

NM_003931.3

p.Q181*

c.541C>T

3 papers

NM_003931.3

p.A208insFs

c.622_623insG

3 papers

NM_003931.3

p.P294S

c.880C>T