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.S19S

c.57C>T

Surrounding Variants

1 paper

NM_003941.4

p.L21F

c.63G>T

1 paper

NM_003941.4

p.L22insFs

c.65_66insG

1 paper

NM_003941.4

p.P24R

c.71C>G

1 paper

NM_003941.4

p.V14I

c.40G>A

1 paper

NM_003941.4

p.N27H

c.79A>C

1 paper

NM_003941.4

p.N27K

c.81C>A

1 paper

NM_003941.4

p.P10P

c.30G>T

1 paper

NM_003941.4

p.P9Q

c.26C>A

1 paper

NM_003941.4

p.Q6R

c.17A>G

1 paper

NM_003941.4

p.Q5H

c.15G>C

1 paper

NM_003941.4

p.S2delFs

c.5delC

1 paper

NM_003941.4

p.K36delFs

c.107_108delCT