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.S315_R316insFs

c.945_946insC

Surrounding Variants

1 paper

NM_003941.4

p.P318insFs

c.952_953insA

1 paper

NM_003941.4

p.P313S

c.937C>T

1 paper

NM_003941.4

p.P310A

c.928C>G

1 paper

NM_003941.4

p.A309T

c.925G>A

1 paper

NM_003941.4

p.P326insFs

c.977_978insC

3 papers

NM_003941.4

p.P303del1

c.907_908delAGG

1 paper

NM_003941.4

p.P301S

c.901C>T

1 paper

NM_003941.4

p.V334D

c.1001T>A

1 paper

NM_003941.4

p.P338insFs

c.1012_1013insT

1 paper

NM_003941.4

p.P339_N340delFs

c.1017_1018delTT

1 paper

NM_003941.4

p.R341insFs

c.1022_1023insT

3 papers

NM_003941.4

p.Y343_P344insFs

c.1029_1030insT