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

1–12 of 104 variants

3 papers

NM_003941.4

p.Y256D

c.766T>G

3 papers

NM_003941.4

p.Y256F

c.767A>T

3 papers

NM_003941.4

p.P303del1

c.907_908delAGG

3 papers

NM_003941.4

p.Y343_P344insFs

c.1029_1030insT

2 papers

NM_003941.4

p.C38W

c.114T>G

2 papers

NM_003941.4

p.G154D

c.461G>A

2 papers

NM_003941.4

p.Q210Splc

c.629+5G>A

2 papers

NM_003941.4

p.V254G

c.761T>G

2 papers

NM_003941.4

p.L272P

c.815T>C

2 papers

NM_003941.4

p.P375L

c.1124C>T

1 paper

NM_003941.4

p.M1insFs

c.1_2ins49

1 paper

NM_003941.4

p.M1I

c.3G>A