Varaico: Literature-Extracted Genetic Variants

WASL

139 papers

RefSeq Summary

This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules t...

Pfam Domains

WH1aa 31–138UCSCWH1 domain

PBDaa 202–261UCSCP21-Rho-binding domain

WH2aa 403–429UCSCWH2 motif

WH2aa 430–457UCSCWH2 motif

Gene Aliases

HGNC Name

WASP like actin nucleation promoting factor

HGNC Alias Symbols

N-WASP; NWASP; WASPB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003941.4

p.T161T

c.483A>G

Surrounding Variants

1 paper

NM_003941.4

p.V162F

c.484G>T

1 paper

NM_003941.4

p.T161P

c.481A>C

1 paper

NM_003941.4

p.I164K

c.491T>A

1 paper

NM_003941.4

p.I164_K165insFs

c.492_493ins19

1 paper

NM_003941.4

p.N166delFs

c.497delT

2 papers

NM_003941.4

p.G154D

c.461G>A

1 paper

NM_003941.4

p.P177S

c.529C>T

1 paper

NM_003941.4

p.S183C

c.548C>G

1 paper

NM_003941.4

p.K186R

c.557A>G

1 paper

NM_003941.4

p.K188R

c.563A>G

1 paper

NM_003941.4

p.K196N

c.588G>T

1 paper

NM_003941.4

p.K196N

c.588G>C