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

7 papers

NM_003931.3

p.R506*

c.1516C>T

Surrounding Variants

1 paper

NM_003931.3

p.I505L

c.1513A>T

1 paper

NM_003931.3

p.E503_A504del2

c.1507_1511del6

1 paper

NM_003931.3

p.L502L

c.1506G>A

1 paper

NM_003931.3

p.G508Splc

c.1522+10T>C

1 paper

NM_003931.3

p.V500delFs

c.1499delA

2 papers

NM_003931.3

p.V500insFs

c.1499_1500insA

4 papers

NM_003931.3

p.I494Fs

c.1482delinsGCCAGGFs

1 paper

NM_003931.3

p.I494Fs

c.1482delinsGCCFs

1 paper

NM_003931.3

p.I494fs

c.1480_1481fs

1 paper

NM_003931.3

p.I494insFs

c.1481_1482insGC

3 papers

NM_003931.3

p.I494fs

c.1480_1481fs

1 paper

NM_003931.3

p.V493L

c.1477G>T